11-beta-hydroxylase deficiency (OMIM: 202010  )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04030 |
21-Deoxycortisol |
Blood |
- Tonetto-Fernandes V, Lemos-Marini SH, Kuperman H, Ribeiro-Neto LM, Verreschi IT, Kater CE: Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2006 Jun;91(6):2179-84. Epub 2006 Mar 21. [PubMed ]
|
| HMDB10375 |
CE(22:5(7Z,10Z,13Z,16Z,19Z)) |
Blood |
- Nikolaos Psychogios, David D. Hau, Jun Peng, An Chi Guo, Rupasri Mandal, Souhaila Bouatra, Igor Sinelnikov, Ramanarayan Krishnamurthy, Roman Eisner, Bijaya Gautam, Nelson Young, Jinaguo Xia, Craig Knox, Ying Wei Dong, Paul Huang, Janet McManus, Theresa Pedersen, Fiona Bamforth, Russ Greiner, Bruce McManus, John Newman, David S. Wishart, The Human Serum Metabolome, PLoS ONE (Submitted).
- Wishart DS, Knox C, Guo AC, Eisner R, Young N, Gautam B, Hau DD, Psychogios N, Dong E, Bouatra S, Mandal R, Sinelnikov I, Xia J, Jia L, Cruz JA, Lim E, Sobsey CA, Shrivastava S, Huang P, Liu P, Fang L, Peng J, Fradette R, Cheng D, Tzur D, Clements M, Lewis A, De Souza A, Zuniga A, Dawe M, Xiong Y, Clive D, Greiner R, Nazyrova A, Shaykhutdinov R, Li L, Vogel HJ, Forsythe I: HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2008 Oct 25. [PubMed ]
|
| HMDB02030 |
Fructosamine |
Blood; Saliva |
- Paroni R, Ceriotti F, Galanello R, Battista Leoni G, Panico A, Scurati E, Paleari R, Chemello L, Quaino V, Scaldaferri L, Lapolla A, Mosca A: Performance characteristics and clinical utility of an enzymatic method for the measurement of glycated albumin in plasma. Clin Biochem. 2007 Dec;40(18):1398-405. Epub 2007 Aug 10. [PubMed ]
|
| HMDB03231 |
Vaccenic acid |
Blood |
- Nikolaos Psychogios, David D. Hau, Jun Peng, An Chi Guo, Rupasri Mandal, Souhaila Bouatra, Igor Sinelnikov, Ramanarayan Krishnamurthy, Roman Eisner, Bijaya Gautam, Nelson Young, Jinaguo Xia, Craig Knox, Ying Wei Dong, Paul Huang, Janet McManus, Theresa Pedersen, Fiona Bamforth, Russ Greiner, Bruce McManus, John Newman, David S. Wishart, The Human Serum Metabolome, PLoS ONE (Submitted).
- Wishart DS, Knox C, Guo AC, Eisner R, Young N, Gautam B, Hau DD, Psychogios N, Dong E, Bouatra S, Mandal R, Sinelnikov I, Xia J, Jia L, Cruz JA, Lim E, Sobsey CA, Shrivastava S, Huang P, Liu P, Fang L, Peng J, Fradette R, Cheng D, Tzur D, Clements M, Lewis A, De Souza A, Zuniga A, Dawe M, Xiong Y, Clive D, Greiner R, Nazyrova A, Shaykhutdinov R, Li L, Vogel HJ, Forsythe I: HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2008 Oct 25. [PubMed ]
|
|
|
21-hydroxylase deficiency (OMIM: 201910 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04030 |
21-Deoxycortisol |
Blood |
- Tonetto-Fernandes V, Lemos-Marini SH, Kuperman H, Ribeiro-Neto LM, Verreschi IT, Kater CE: Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2006 Jun;91(6):2179-84. Epub 2006 Mar 21. [PubMed ]
|
|
|
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (OMIM: 246450 )
7 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00754 |
3-Hydroxyisovaleric acid |
Blood; CSF; Urine |
|
| HMDB00355 |
3-Hydroxymethylglutaric acid |
Urine |
|
| HMDB00459 |
3-Methylcrotonylglycine |
Urine |
|
| HMDB00522 |
3-Methylglutaconic acid |
Blood; Urine |
|
| HMDB00448 |
Adipic acid |
Blood; CSF; Urine |
|
| HMDB00051 |
Ammonia |
Blood; Cellular Cytoplasm; CSF; Urine |
|
| HMDB00752 |
Methylglutaric acid |
Urine |
|
|
|
3-Methylglutaconic aciduria (OMIM: 250950 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00754 |
3-Hydroxyisovaleric acid |
Blood; CSF; Urine |
- Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr;19(2):271-8. [PubMed ]
|
|
|
Abetalipoproteinemia (OMIM: 200100 )
9 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04844 |
Ganglioside GM3 (d18:1/16:0) |
Blood |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
| HMDB00140 |
Glucosylceramide |
Blood |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
| HMDB04866 |
Lactosylceramide (d18:1/12:0) |
Blood |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
| HMDB04958 |
Tetrahexosylceramide (d18:1/12:0) |
Blood |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
| HMDB04877 |
Trihexosylceramide (d18:1/12:0) |
Blood; Urine |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
| HMDB04880 |
Trihexosylceramide (d18:1/18:0) |
Blood; Urine |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
| HMDB04882 |
Trihexosylceramide (d18:1/22:0) |
Blood; Urine |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
| HMDB04886 |
Trihexosylceramide (d18:1/24:0) |
Blood; Urine |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
| HMDB04884 |
Trihexosylceramide (d18:1/26:1(17Z)) |
Blood; Urine |
- Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
|
|
|
Acute liver disease
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01045 |
Enkephalin L |
Blood |
- Thornton JR, Losowsky MS: Plasma leucine enkephalin is increased in liver disease. Gut. 1989 Oct;30(10):1392-5. [PubMed ]
|
|
|
Acute liver failure
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
|
|
|
Acute myelogenous leukemia (OMIM: 602439 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00067 |
Cholesterol |
Bile; Blood; CSF; Saliva; Urine |
- Tatidis L, Vitols S, Gruber A, Paul C, Axelson M: Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis. Cancer Lett. 2001 Sep 20;170(2):169-75. [PubMed ]
|
| HMDB00122 |
D-Glucose |
Blood; Breast Milk; CSF; Saliva; Urine |
- Tatidis L, Vitols S, Gruber A, Paul C, Axelson M: Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis. Cancer Lett. 2001 Sep 20;170(2):169-75. [PubMed ]
|
|
|
Acute seizures
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00192 |
L-Cystine |
Blood; CSF; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
|
|
Addison's Disease (OMIM: 240200 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00068 |
Epinephrine |
Blood; CSF; Urine |
- Bornstein SR, Breidert M, Ehrhart-Bornstein M, Kloos B, Scherbaum WA: Plasma catecholamines in patients with Addison's disease. Clin Endocrinol (Oxf). 1995 Feb;42(2):215-8. [PubMed ]
|
|
|
Adenosine deaminase deficiency (OMIM: 102700 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB11599 |
1-Methyladenine |
Urine |
- Mills GC: 1-Methyladenine in urine of an adenosine deaminase-deficient adult without immunodeficiency. Biochem Med Metab Biol. 1989 Dec;42(3):240-7. [PubMed ]
|
| HMDB00101 |
Deoxyadenosine |
Urine |
- Yamamoto T, Moriwaki Y, Takahashi S, Fujita T, Tsutsumi Z, Yamakita J, Shimizu K, Shiota M, Ohta S, Higashino K: Determination of adenosine and deoxyadenosine in urine by high-performance liquid chromatography with column switching. J Chromatogr B Biomed Sci Appl. 1998 Nov 20;719(1-2):55-61. [PubMed ]
|
|
|
Adenylosuccinate lyase deficiency (OMIM: 103050 )
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00797 |
SAICAR |
CSF |
- Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. [PubMed ]
|
| HMDB00912 |
Succinyladenosine |
Blood; CSF |
- Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. [PubMed ]
|
| HMDB00289 |
Uric acid |
Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine |
- Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. [PubMed ]
|
|
|
Adrenoleukodystrophy (OMIM: 300100 )
5 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02356 |
Hexacosanoic acid |
Blood |
|
| HMDB00716 |
L-Pipecolic acid |
Blood |
- Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al.: Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771-7. [PubMed ]
|
| HMDB00801 |
Phytanic acid |
Blood |
|
| HMDB00795 |
Pristanic acid |
Blood |
|
| HMDB02163 |
Trihydroxycoprostanoic acid |
Blood |
- Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al.: Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771-7. [PubMed ]
|
|
|
Adrenomyeloneuropathy (OMIM: 300100 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02068 |
Erucic acid |
Blood |
- Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, Rocchiccioli F, Cartier N, Jambaque I, Jakobezak C, Lemaitre A, Boureau F, Wolf C, et al.: A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy. N Engl J Med. 1993 Sep 9;329(11):745-52. [PubMed ]
|
| HMDB02356 |
Hexacosanoic acid |
Blood |
- Sadeghi-Nejad A, Senior B: Adrenomyeloneuropathy presenting as Addison's disease in childhood. N Engl J Med. 1990 Jan 4;322(1):13-6. [PubMed ]
|
|
|
AIDS
7 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01396 |
5-Methyltetrahydrofolic acid |
Blood; CSF |
- Surtees R, Hyland K, Smith I: Central-nervous-system methyl-group metabolism in children with neurological complications of HIV infection. Lancet. 1990 Mar 17;335(8690):619-21. [PubMed ]
|
| HMDB00039 |
Butyric acid |
Blood; CSF; Saliva; Urine |
- Stein TP, Koerner B, Schluter MD, Leskiw MJ, Gaprindachvilli T, Richards EW, Cope FO, Condolucci D: Weight loss, the gut and the inflammatory response in aids patients. Cytokine. 1997 Feb;9(2):143-7. [PubMed ]
|
| HMDB00098 |
D-Xylose |
Blood; Urine |
- Ehrenpreis ED, Salvino M, Craig RM: Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption. J Clin Gastroenterol. 2001 Jul;33(1):36-40. [PubMed ]
|
| HMDB00574 |
L-Cysteine |
Blood; CSF; Urine |
- Naisbitt DJ, Vilar FJ, Stalford AC, Wilkins EG, Pirmohamed M, Park BK: Plasma cysteine deficiency and decreased reduction of nitrososulfamethoxazole with HIV infection. AIDS Res Hum Retroviruses. 2000 Dec 10;16(18):1929-38. [PubMed ]
|
| HMDB00765 |
Mannitol |
Blood; CSF; Urine |
- Megson GM, Stevens DA, Hamilton JR, Denning DW: D-mannitol in cerebrospinal fluid of patients with AIDS and cryptococcal meningitis. J Clin Microbiol. 1996 Jan;34(1):218-21. [PubMed ]
|
| HMDB00845 |
Neopterin |
Blood; CSF; Urine |
- Ellaurie M, Calvelli T, Rubinstein A: Neopterin concentrations in pediatric human immunodeficiency virus infection as predictor of disease activity. Pediatr Infect Dis J. 1992 Apr;11(4):286-9. [PubMed ]
|
| HMDB00232 |
Quinolinic acid |
Blood; CSF; Urine |
- Heyes MP, Saito K, Lackner A, Wiley CA, Achim CL, Markey SP: Sources of the neurotoxin quinolinic acid in the brain of HIV-1-infected patients and retrovirus-infected macaques. FASEB J. 1998 Jul;12(10):881-96. [PubMed ]
|
|
|
Alcoholism
17 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB11469 |
2-Butanol |
Blood |
- Jones AW, Lund M, Andersson E: Drinking drivers in Sweden who consume denatured alcohol preparations: an analytical-toxicological study. J Anal Toxicol. 1989 Jul-Aug;13(4):199-203. [PubMed ]
|
| HMDB03759 |
5a-Pregnane-3,20-dione |
Blood |
- Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ]
|
| HMDB00990 |
Acetaldehyde |
Blood; CSF; Urine |
- Brecher AS, Adamu MT: Short- and long-term effects of acetaldehyde on plasma. Alcohol. 2002 Jan;26(1):49-53. [PubMed ]
|
| HMDB01659 |
Acetone |
Blood; CSF; Urine |
- Jones AW, Lund M, Andersson E: Drinking drivers in Sweden who consume denatured alcohol preparations: an analytical-toxicological study. J Anal Toxicol. 1989 Jul-Aug;13(4):199-203. [PubMed ]
|
| HMDB01449 |
Allopregnanolone |
Blood; CSF |
- Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ]
|
| HMDB00474 |
Butanone |
Blood; Urine |
- Jones AW, Lund M, Andersson E: Drinking drivers in Sweden who consume denatured alcohol preparations: an analytical-toxicological study. J Anal Toxicol. 1989 Jul-Aug;13(4):199-203. [PubMed ]
|
| HMDB02961 |
Dihydrotestosterone |
Blood |
- Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ]
|
| HMDB00108 |
Ethanol |
Blood; CSF; Saliva; Urine |
|
| HMDB00863 |
Isopropyl alcohol |
Blood; CSF |
- Jones AW, Lund M, Andersson E: Drinking drivers in Sweden who consume denatured alcohol preparations: an analytical-toxicological study. J Anal Toxicol. 1989 Jul-Aug;13(4):199-203. [PubMed ]
|
| HMDB01875 |
Methanol |
Blood; CSF; Saliva; Urine |
|
| HMDB01488 |
Nicotinic acid |
Blood; CSF; Urine |
- Dastur DK, Santhadevi N, Quadros EV, Avari FC, Wadia NH, Desai MN, Bharucha EP: The B-vitamins in malnutrition with alcoholism. A model of intervitamin relationships. Br J Nutr. 1976 Sep;36(2):143-59. [PubMed ]
|
| HMDB00210 |
Pantothenic acid |
Blood; CSF; Urine |
- Dastur DK, Santhadevi N, Quadros EV, Avari FC, Wadia NH, Desai MN, Bharucha EP: The B-vitamins in malnutrition with alcoholism. A model of intervitamin relationships. Br J Nutr. 1976 Sep;36(2):143-59. [PubMed ]
|
| HMDB01830 |
Progesterone |
Blood; CSF |
- Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ]
|
| HMDB00244 |
Riboflavin |
Blood; CSF; Urine |
- Dastur DK, Santhadevi N, Quadros EV, Avari FC, Wadia NH, Desai MN, Bharucha EP: The B-vitamins in malnutrition with alcoholism. A model of intervitamin relationships. Br J Nutr. 1976 Sep;36(2):143-59. [PubMed ]
|
| HMDB06088 |
Scyllitol |
Blood; CSF |
- Viola A, Nicoli F, Denis B, Confort-Gouny S, Le Fur Y, Ranjeva JP, Viout P, Cozzone PJ: High cerebral scyllo-inositol: a new marker of brain metabolism disturbances induced by chronic alcoholism. MAGMA. 2004 Sep;17(1):47-61. Epub 2004 Aug 31. [PubMed ]
|
| HMDB00879 |
Tetrahydrodeoxycorticosterone |
Blood; Urine |
- Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ]
|
| HMDB00235 |
Thiamine |
Blood; CSF; Urine |
- Dastur DK, Santhadevi N, Quadros EV, Avari FC, Wadia NH, Desai MN, Bharucha EP: The B-vitamins in malnutrition with alcoholism. A model of intervitamin relationships. Br J Nutr. 1976 Sep;36(2):143-59. [PubMed ]
|
|
|
Aldehyde dehydrogenase deficiency
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00990 |
Acetaldehyde |
Blood; CSF; Urine |
- Brecher AS, Adamu MT: Short- and long-term effects of acetaldehyde on plasma. Alcohol. 2002 Jan;26(1):49-53. [PubMed ]
|
|
|
Aldosterone biosynthesis defects
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00319 |
18-Hydroxycorticosterone |
Blood |
- Peter M, Partsch CJ, Sippell WG: Multisteroid analysis in children with terminal aldosterone biosynthesis defects. J Clin Endocrinol Metab. 1995 May;80(5):1622-7. [PubMed ]
|
|
|
Alkaptonuria (OMIM: 203500 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00130 |
Homogentisic acid |
Blood; Urine |
|
|
|
Alpha-1-antitrypsin deficiency (OMIM: 107400 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
|
|
|
Alpha-aminoadipic aciduria
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00510 |
Aminoadipic acid |
Blood; Urine |
- Vallat C, Rivier F, Bellet H, Magnan de Bornier B, Mion H, Echenne B: Treatment with vigabatrin may mimic alpha-aminoadipic aciduria. Epilepsia. 1996 Aug;37(8):803-5. [PubMed ]
|
|
|
Alzheimer's disease (OMIM: 104300 )
86 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02712 |
1,5-Anhydrosorbitol |
Blood; CSF |
- Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ]
|
| HMDB00001 |
1-Methylhistidine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB01419 |
24-Hydroxycholesterol |
Blood; CSF |
- Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ]
|
| HMDB02103 |
27-Hydroxycholesterol |
Blood; CSF |
- Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ]
|
| HMDB01336 |
3,4-Dihydroxybenzeneacetic acid |
Blood; CSF; Urine |
- Raskind MA, Peskind ER, Holmes C, Goldstein DS: Patterns of cerebrospinal fluid catechols support increased central noradrenergic responsiveness in aging and Alzheimer's disease. Biol Psychiatry. 1999 Sep 15;46(6):756-65. [PubMed ]
|
| HMDB00479 |
3-Methylhistidine |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB06055 |
4-Hydroxy-L-proline |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB04362 |
4-Hydroxynonenal |
Blood; CSF; Urine |
- Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed ]
|
| HMDB00450 |
5-Hydroxylysine |
Blood; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB02032 |
8-Hydroxyguanine |
Blood; CSF |
- Lovell MA, Markesbery WR: Ratio of 8-hydroxyguanine in intact DNA to free 8-hydroxyguanine is increased in Alzheimer disease ventricular cerebrospinal fluid. Arch Neurol. 2001 Mar;58(3):392-6. [PubMed ]
|
| HMDB02044 |
8-Hydroxyguanosine |
Blood; CSF |
- Abe T, Tohgi H, Isobe C, Murata T, Sato C: Remarkable increase in the concentration of 8-hydroxyguanosine in cerebrospinal fluid from patients with Alzheimer's disease. J Neurosci Res. 2002 Nov 1;70(3):447-50. [PubMed ]
|
| HMDB00895 |
Acetylcholine |
CSF; Urine |
- Jia JP, Jia JM, Zhou WD, Xu M, Chu CB, Yan X, Sun YX: Differential acetylcholine and choline concentrations in the cerebrospinal fluid of patients with Alzheimer's disease and vascular dementia. Chin Med J (Engl). 2004 Aug;117(8):1161-4. [PubMed ]
|
| HMDB01247 |
Aluminum |
Blood; CSF |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00194 |
Anserine |
Blood; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB04142 |
Barium |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB02387 |
Beryllium |
Blood |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB02196 |
Bismuth |
Blood |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB03638 |
Cadmium |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00464 |
Calcium |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00033 |
Carnosine |
Blood; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00097 |
Choline |
Blood; Breast Milk; CSF; Saliva; Urine |
- Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ]
|
| HMDB00904 |
Citrulline |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00608 |
Cobalt |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00657 |
Copper |
Blood; CSF; Urine |
|
| HMDB00122 |
D-Glucose |
Blood; Breast Milk; CSF; Saliva; Urine |
- Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed ]
|
| HMDB00609 |
DL-Dopa |
Blood |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00073 |
Dopamine |
Blood; CSF; Urine |
|
| HMDB03869 |
Epsilon-(gamma-Glutamyl)-lysine |
Blood; CSF |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00121 |
Folic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed ]
|
| HMDB00134 |
Fumaric acid |
Blood; CSF; Urine |
- Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed ]
|
| HMDB00107 |
Galactitol |
Amniotic Fluid; Blood; CSF; Urine |
- Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ]
|
| HMDB00112 |
Gamma-Aminobutyric acid |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00086 |
Glycerophosphocholine |
Blood; Breast Milk; CSF; Semen |
- Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ]
|
| HMDB00123 |
Glycine |
Bile; Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00721 |
Glycylproline |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00742 |
Homocysteine |
Blood; CSF; Urine |
|
| HMDB00725 |
Hydroxyproline |
Blood; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00692 |
Iron |
Blood; CSF; Urine |
|
| HMDB06284 |
L-2,4-diaminobutyric acid |
Blood; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00452 |
L-Alpha-aminobutyric acid |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB01851 |
L-Arabitol |
Blood; CSF; Urine |
- Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ]
|
| HMDB00517 |
L-Arginine |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00168 |
L-Asparagine |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00191 |
L-Aspartic acid |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00099 |
L-Cystathionine |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00192 |
L-Cystine |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00181 |
L-Dopa |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00148 |
L-Glutamic acid |
Blood; Cellular Cytoplasm; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00641 |
L-Glutamine |
Blood; CSF; Saliva; Urine |
|
| HMDB00177 |
L-Histidine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00172 |
L-Isoleucine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00687 |
L-Leucine |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00182 |
L-Lysine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00159 |
L-Phenylalanine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00162 |
L-Proline |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00187 |
L-Serine |
Blood; CSF; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00167 |
L-Threonine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00929 |
L-Tryptophan |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00158 |
L-Tyrosine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00883 |
L-Valine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB04628 |
Lead |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB05949 |
Lithium |
Blood |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00547 |
Magnesium |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB01333 |
Manganese |
Blood; CSF; Urine |
|
| HMDB00765 |
Mannitol |
Blood; CSF; Urine |
- Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ]
|
| HMDB03625 |
Mercury |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00202 |
Methylmalonic acid |
Blood; CSF; Urine |
|
| HMDB01302 |
Molybdenum |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00211 |
Myoinositol |
Blood; CSF; Urine |
- Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ]
|
| HMDB02457 |
Nickel |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00214 |
Ornithine |
Blood; CSF; Saliva; Urine |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB03933 |
Pentosidine |
Blood; CSF |
- Bar KJ, Franke S, Wenda B, Muller S, Kientsch-Engel R, Stein G, Sauer H: Pentosidine and N(epsilon)-(carboxymethyl)-lysine in Alzheimer's disease and vascular dementia. Neurobiol Aging. 2003 Mar-Apr;24(2):333-8. [PubMed ]
|
| HMDB01565 |
Phosphorylcholine |
Blood; Breast Milk; CSF |
- Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ]
|
| HMDB06695 |
Prolylhydroxyproline |
CSF |
- Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ]
|
| HMDB00508 |
Ribitol |
Blood; CSF; Urine |
- Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ]
|
| HMDB02175 |
Silicon |
Blood; CSF |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00247 |
Sorbitol |
Blood; CSF; Saliva; Urine |
- Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ]
|
| HMDB03642 |
Strontium |
Blood |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB00254 |
Succinic acid |
Blood; CSF; Saliva; Urine |
- Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed ]
|
| HMDB02666 |
Thiamine monophosphate |
Blood; CSF |
- Molina JA, Jimenez-Jimenez FJ, Hernanz A, Fernandez-Vivancos E, Medina S, de Bustos F, Gomez-Escalonilla C, Sayed Y: Cerebrospinal fluid levels of thiamine in patients with Alzheimer's disease. J Neural Transm. 2002 Jul;109(7-8):1035-44. [PubMed ]
|
| HMDB01372 |
Thiamine pyrophosphate |
Blood; CSF |
- Molina JA, Jimenez-Jimenez FJ, Hernanz A, Fernandez-Vivancos E, Medina S, de Bustos F, Gomez-Escalonilla C, Sayed Y: Cerebrospinal fluid levels of thiamine in patients with Alzheimer's disease. J Neural Transm. 2002 Jul;109(7-8):1035-44. [PubMed ]
|
| HMDB01960 |
Tin |
Blood; CSF |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB01966 |
Titanium |
Blood |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB01989 |
Tungsten |
Blood; CSF; Urine |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB02503 |
Vanadium |
Blood; CSF |
- Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ]
|
| HMDB01303 |
Zinc |
Blood; CSF; Urine |
|
|
|
Aminoacylase I deficiency (OMIM: 609924 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00532 |
Acetylglycine |
Blood; Urine |
- Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W: Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun. 2005 Dec 23;338(3):1322-6. Epub 2005 Nov 2. [PubMed ]
- A J, Trygg J, Gullberg J, Johansson AI, Jonsson P, Antti H, Marklund SL, Moritz T: Extraction and GC/MS analysis of the human blood plasma metabolome. Anal Chem. 2005 Dec 15;77(24):8086-94. [PubMed ]
|
| HMDB02931 |
N-Acetylserine |
Urine |
- Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H: Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet. 2006 Mar;78(3):401-9. Epub 2006 Jan 18. [PubMed ]
|
|
|
Amphetamine psychosis
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00819 |
Normetanephrine |
Blood; Urine |
- Yui K, Goto K, Ikemoto S, Ishiguro T: Plasma monoamine metabolites and spontaneous recurrence of methamphetamine-induced paranoid-hallucinatory psychosis: relation of noradrenergic activity to the occurrence of flashbacks. Psychiatry Res. 1996 Jul 31;63(2-3):93-107. [PubMed ]
|
|
|
Amyotrophic lateral sclerosis (OMIM: 105400 )
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00667 |
L-Thyronine |
Blood; Urine |
- Malin JP, Kodding R, Fuhrmann H, von zur Muhlen A: T4, T3 and rT3 levels in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis. J Neurol. 1989 Jan;236(1):57-9. [PubMed ]
|
| HMDB02878 |
Nitrate |
Blood; CSF |
- Boll MC, Alcaraz-Zubeldia M, Montes S, Murillo-Bonilla L, Rios C: Raised nitrate concentration and low SOD activity in the CSF of sporadic ALS patients. Neurochem Res. 2003 May;28(5):699-703. [PubMed ]
|
| HMDB01220 |
Prostaglandin E2 |
Blood; CSF; Urine |
- Almer G, Teismann P, Stevic Z, Halaschek-Wiener J, Deecke L, Kostic V, Przedborski S: Increased levels of the pro-inflammatory prostaglandin PGE2 in CSF from ALS patients. Neurology. 2002 Apr 23;58(8):1277-9. [PubMed ]
|
|
|
Anemia
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00715 |
Kynurenic acid |
Blood; CSF; Urine |
- Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ]
|
| HMDB00070 |
Pipecolic acid |
Amniotic Fluid; Blood; CSF; Urine |
- Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ]
|
| HMDB00232 |
Quinolinic acid |
Blood; CSF; Urine |
- Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ]
|
|
|
Anephric patients
6 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00430 |
24,25-Dihydroxyvitamin D |
Blood |
- Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ]
|
| HMDB01420 |
25,26-dihydroxyvitamin D |
Blood |
- Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ]
|
| HMDB01438 |
25-Hydroxyvitamin D2 |
Blood; Urine |
- Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ]
|
| HMDB03550 |
Calcidiol |
Blood; Urine |
- Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ]
|
| HMDB00900 |
Ergocalciferol |
Blood |
- Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ]
|
| HMDB00876 |
Vitamin D3 |
Blood |
- Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ]
|
|
|
Angina
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04242 |
11-Dehydro-thromboxane B2 |
Blood; Urine |
- Koike T, Hattori A, Igarashi Y, Matsubara T, Tamura Y, Yamazoe M, Izumi T, Shibata A: [Elevation of 11-dehydro-thromboxane B2 levels in unstable angina] J Cardiol. 1991;21(4):899-904. [PubMed ]
|
|
|
Anorexia nervosa (OMIM: 606788 )
13 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00526 |
5a-Tetrahydrocortisol |
Blood; Urine |
- Vierhapper H, Kiss A, Nowotny P, Wiesnagrotzki S, Monder C, Waldhausl W: Metabolism of cortisol in anorexia nervosa. Acta Endocrinol (Copenh). 1990 Jun;122(6):753-8. [PubMed ]
|
| HMDB00448 |
Adipic acid |
Blood; CSF; Urine |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB00063 |
Cortisol |
Blood; CSF; Saliva; Urine |
- Vierhapper H, Kiss A, Nowotny P, Wiesnagrotzki S, Monder C, Waldhausl W: Metabolism of cortisol in anorexia nervosa. Acta Endocrinol (Copenh). 1990 Jun;122(6):753-8. [PubMed ]
|
| HMDB00622 |
Ethylmalonic acid |
CSF; Urine |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB01248 |
FAD |
Blood |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB01520 |
Flavin Mononucleotide |
Blood |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB00661 |
Glutaric acid |
Blood; Urine |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB00678 |
Isovalerylglycine |
Blood; Urine |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB00265 |
Liothyronine |
Blood; Saliva; Urine |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB00244 |
Riboflavin |
Blood; CSF; Urine |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB00893 |
Suberic acid |
Blood; CSF; Urine |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
| HMDB00903 |
Tetrahydrocortisone |
Blood; Urine |
- Vierhapper H, Kiss A, Nowotny P, Wiesnagrotzki S, Monder C, Waldhausl W: Metabolism of cortisol in anorexia nervosa. Acta Endocrinol (Copenh). 1990 Jun;122(6):753-8. [PubMed ]
|
| HMDB00248 |
Thyroxine |
Blood; Saliva; Urine |
- Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
|
|
|
Anoxia
9 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00357 |
3-Hydroxybutyric acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
| HMDB00060 |
Acetoacetic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
| HMDB00193 |
Isocitric acid |
Blood; Cellular Cytoplasm; CSF; Semen; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
| HMDB00148 |
L-Glutamic acid |
Blood; Cellular Cytoplasm; CSF; Saliva; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
| HMDB00190 |
L-Lactic acid |
Bile; Blood; Cellular Cytoplasm; CSF; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
| HMDB00156 |
L-Malic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
| HMDB00223 |
Oxalacetic acid |
Cellular Cytoplasm; CSF; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
| HMDB00208 |
Oxoglutaric acid |
Blood; Cellular Cytoplasm; CSF; N/A; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
| HMDB00243 |
Pyruvic acid |
Blood; Cellular Cytoplasm; CSF; Saliva; Urine |
- Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
|
|
|
Appendicitis
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00197 |
Indoleacetic acid |
Blood; CSF; Urine |
- Ilkhanizadeh B, Owji AA, Tavangar SM, Vasei M, Tabei SM: Spot urine 5-hydroxy indole acetic acid and acute appendicitis. Hepatogastroenterology. 2001 May-Jun;48(39):609-13. [PubMed ]
|
|
|
Argininemia (OMIM: 207800 )
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00052 |
Argininosuccinic acid |
Blood; Urine |
|
| HMDB00517 |
L-Arginine |
Blood; CSF; Urine |
|
| HMDB00300 |
Uracil |
Amniotic Fluid; Blood; CSF; Urine |
|
|
|
Argininosuccinic aciduria (OMIM: 207900 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00051 |
Ammonia |
Blood; Cellular Cytoplasm; CSF; Urine |
|
| HMDB00904 |
Citrulline |
Blood; CSF; Urine |
|
|
|
Aromatic L-amino acid decarboxylase deficiency (OMIM: 107930 )
9 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01434 |
3-Methoxytyrosine |
Blood; CSF; Urine |
|
| HMDB00763 |
5-Hydroxyindoleacetic acid |
Blood; CSF; Urine |
- Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
|
| HMDB00073 |
Dopamine |
Blood; CSF; Urine |
- Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
|
| HMDB00118 |
Homovanillic acid |
Blood; CSF; Urine |
- Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
|
| HMDB00866 |
N-Acetyl-L-tyrosine |
Blood; Urine |
- Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
|
| HMDB11716 |
N-Acetylvanilalanine |
Urine |
- Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
|
| HMDB00291 |
Vanillylmandelic acid |
Blood; Urine |
- Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
|
| HMDB11714 |
Vanilpyruvic acid |
Blood; Urine |
- Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
|
| HMDB01490 |
Vanylglycol |
Blood; CSF; Urine |
- Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
|
|
|
Asthma (OMIM: 600807 )
13 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02123 |
1,3,7-Trimethyluric acid |
Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB01857 |
1,3-Dimethyluric acid |
Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB11103 |
1,7-Dimethyluric acid |
Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB10738 |
1-Methylxanthine |
Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB10199 |
11b-PGF2a |
Blood; Urine |
- Mai XM, Bottcher MF, Bruhammar M, Nilsson L, Zetterstrom O: Urinary inflammatory mediators and inhalation of hypertonic saline in children. Allergy. 2005 Jan;60(1):60-4. [PubMed ]
|
| HMDB01885 |
3-Chlorotyrosine |
Blood; Urine |
- Mita H, Higashi N, Taniguchi M, Higashi A, Kawagishi Y, Akiyama K: Urinary 3-bromotyrosine and 3-chlorotyrosine concentrations in asthmatic patients: lack of increase in 3-bromotyrosine concentration in urine and plasma proteins in aspirin-induced asthma after intravenous aspirin challenge. Clin Exp Allergy. 2004 Jun;34(6):931-8. [PubMed ]
|
| HMDB01886 |
3-Methylxanthine |
Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB11134 |
5-HETE |
Blood; CSF |
- Chavis C, Fraissinet L, Chanez P, Thomas E, Bousquet J: A method for the measurement of plasma hydroxyeicosatetraenoic acid levels. Anal Biochem. 1999 Jun 15;271(1):105-8. [PubMed ]
|
| HMDB01991 |
7-Methylxanthine |
Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB01847 |
Caffeine |
Blood; Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB01860 |
Paraxanthine |
Blood; Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB02825 |
Theobromine |
Blood; Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
| HMDB01889 |
Theophylline |
Blood; Urine |
- Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
|
|
|
Athyreosis
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00021 |
Iodotyrosine |
Blood |
- Tan SA, Lewis JE, Berk LS, Wilcox RB: Extrathyroidal physiology of monoiodotyrosine in humans. Clin Physiol Biochem. 1990;8(3):109-15. [PubMed ]
|
|
|
Autism (OMIM: 209850 )
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00118 |
Homovanillic acid |
Blood; CSF; Urine |
- Narayan M, Srinath S, Anderson GM, Meundi DB: Cerebrospinal fluid levels of homovanillic acid and 5-hydroxyindoleacetic acid in autism. Biol Psychiatry. 1993 Apr 15-May 1;33(8-9):630-5. [PubMed ]
|
| HMDB00099 |
L-Cystathionine |
Blood; CSF; Urine |
- James SJ, Cutler P, Melnyk S, Jernigan S, Janak L, Gaylor DW, Neubrander JA: Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr. 2004 Dec;80(6):1611-7. [PubMed ]
|
| HMDB00912 |
Succinyladenosine |
Blood; CSF |
- Jaeken J, Van den Berghe G: An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet. 1984 Nov 10;2(8411):1058-61. [PubMed ]
|
|
|
Autosomal dominant polycystic kidney disease (OMIM: 601313 )
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04667 |
13S-hydroxyoctadecadienoic acid |
Blood; CSF; Urine |
- Wang D, Strandgaard S, Borresen ML, Luo Z, Connors SG, Yan Q, Wilcox CS: Asymmetric dimethylarginine and lipid peroxidation products in early autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb;51(2):184-91. [PubMed ]
|
| HMDB01539 |
Dimethyl-L-arginine |
Blood; CSF; Urine |
- Wang D, Strandgaard S, Borresen ML, Luo Z, Connors SG, Yan Q, Wilcox CS: Asymmetric dimethylarginine and lipid peroxidation products in early autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb;51(2):184-91. [PubMed ]
|
| HMDB03334 |
Symmetric dimethylarginine |
Blood; Urine |
- Wang D, Strandgaard S, Borresen ML, Luo Z, Connors SG, Yan Q, Wilcox CS: Asymmetric dimethylarginine and lipid peroxidation products in early autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb;51(2):184-91. [PubMed ]
|
|
|
Bacterial infections
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00159 |
L-Phenylalanine |
Blood; CSF; Saliva; Urine |
- Wannemacher RW Jr, Klainer AS, Dinterman RE, Beisel WR: The significance and mechanism of an increased serum phenylalanine-tyrosine ratio during infection. Am J Clin Nutr. 1976 Sep;29(9):997-1006. [PubMed ]
|
|
|
Benign gynecological diseases
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00063 |
Cortisol |
Blood; CSF; Saliva; Urine |
- Murakami K, Nakagawa T, Shozu M, Uchide K, Koike K, Inoue M: Changes with aging of steroidal levels in the cerebrospinal fluid of women. Maturitas. 1999 Sep 24;33(1):71-80. [PubMed ]
|
| HMDB00151 |
Estradiol |
Blood; CSF; Saliva; Urine |
- Murakami K, Nakagawa T, Shozu M, Uchide K, Koike K, Inoue M: Changes with aging of steroidal levels in the cerebrospinal fluid of women. Maturitas. 1999 Sep 24;33(1):71-80. [PubMed ]
|
|
|
Benign prostatic hyperplasia (OMIM: 600082 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00031 |
Androsterone |
Blood; N/A; Urine |
- Hammond GL: Endogenous steroid levels in the human prostate from birth to old age: a comparison of normal and diseased tissues. J Endocrinol. 1978 Jul;78(1):7-19. [PubMed ]
|
|
|
Benzene exposure
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02349 |
trans-trans-Muconic acid |
Urine |
- Chanvaivit S, Navasumrit P, Hunsonti P, Autrup H, Ruchirawat M: Exposure assessment of benzene in Thai workers, DNA-repair capacity and influence of genetic polymorphisms. Mutat Res. 2007 Jan 10;626(1-2):79-87. Epub 2006 Nov 13. [PubMed ]
|
|
|
Beta-thalassemia (OMIM: 141900 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB10316 |
Acetaminophen glucuronide |
Blood |
- Tankanitlert J, Howard TA, Temsakulphong A, Sirankapracha P, Morales NP, Sanvarinda Y, Fucharoen P, Ware RE, Fucharoen S, Chantharaksri U: A pharmacokinetic study of paracetamol in Thai beta-thalassemia/HbE patients. Eur J Clin Pharmacol. 2006 Sep;62(9):743-8. Epub 2006 Jul 15. [PubMed ]
|
| HMDB01060 |
Ubiquinol 8 |
Blood |
- De Luca C, Filosa A, Grandinetti M, Maggio F, Lamba M, Passi S: Blood antioxidant status and urinary levels of catecholamine metabolites in beta-thalassemia. Free Radic Res. 1999 Jun;30(6):453-62. [PubMed ]
|
|
|
Beta-ureidopropionase deficiency (OMIM: 613161 )
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00079 |
Dihydrothymine |
CSF; Urine |
- van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22. [PubMed ]
|
| HMDB00262 |
Thymine |
Blood; CSF; Urine |
- van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22. [PubMed ]
|
| HMDB02031 |
Ureidoisobutyric acid |
CSF; Urine |
- van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22. [PubMed ]
|
|
|
Biliary atresia (OMIM: 210500 )
9 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00518 |
Chenodeoxycholic acid |
Bile; Blood; Urine |
|
| HMDB00637 |
Chenodeoxycholic acid glycine conjugate |
Bile; Blood; Urine |
- Nittono H, Obinata K, Nakatsu N, Watanabe T, Niijima S, Sasaki H, Arisaka O, Kato H, Yabuta K, Miyano T: Sulfated and nonsulfated bile acids in urine of patients with biliary atresia: analysis of bile acids by high-performance liquid chromatography. J Pediatr Gastroenterol Nutr. 1986 Jan;5(1):23-9. [PubMed ]
|
| HMDB00619 |
Cholic acid |
Bile; Blood; Urine |
|
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
|
| HMDB00115 |
Glycolic acid |
Blood; CSF; Urine |
- Nittono H, Obinata K, Nakatsu N, Watanabe T, Niijima S, Sasaki H, Arisaka O, Kato H, Yabuta K, Miyano T: Sulfated and nonsulfated bile acids in urine of patients with biliary atresia: analysis of bile acids by high-performance liquid chromatography. J Pediatr Gastroenterol Nutr. 1986 Jan;5(1):23-9. [PubMed ]
|
| HMDB02061 |
Hyaluronic acid |
Blood; CSF |
- Ukarapol N, Wongsawasdi L, Ong-Chai S, Riddhiputra P, Kongtawelert P: Hyaluronic acid: additional biochemical marker in the diagnosis of biliary atresia. Pediatr Int. 2007 Oct;49(5):608-11. [PubMed ]
|
| HMDB00761 |
Lithocholic acid |
Bile; Blood; Urine |
- Gustafsson J, Alvelius G, Bjorkhem I, Nemeth A: Bile acid metabolism in extrahepatic biliary atresia: lithocholic acid in stored dried blood collected at neonatal screening. Ups J Med Sci. 2006;111(1):131-6. [PubMed ]
|
| HMDB00951 |
Taurochenodesoxycholic acid |
Bile; Blood; Urine |
- Nittono H, Obinata K, Nakatsu N, Watanabe T, Niijima S, Sasaki H, Arisaka O, Kato H, Yabuta K, Miyano T: Sulfated and nonsulfated bile acids in urine of patients with biliary atresia: analysis of bile acids by high-performance liquid chromatography. J Pediatr Gastroenterol Nutr. 1986 Jan;5(1):23-9. [PubMed ]
|
| HMDB00036 |
Taurocholic acid |
Bile; Blood; Urine |
- Nittono H, Obinata K, Nakatsu N, Watanabe T, Niijima S, Sasaki H, Arisaka O, Kato H, Yabuta K, Miyano T: Sulfated and nonsulfated bile acids in urine of patients with biliary atresia: analysis of bile acids by high-performance liquid chromatography. J Pediatr Gastroenterol Nutr. 1986 Jan;5(1):23-9. [PubMed ]
|
|
|
Biotinidase deficiency (OMIM: 253260 )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00379 |
2-Methylcitric acid |
Blood; CSF; Urine |
|
| HMDB00754 |
3-Hydroxyisovaleric acid |
Blood; CSF; Urine |
|
| HMDB00459 |
3-Methylcrotonylglycine |
Urine |
|
| HMDB00700 |
Hydroxypropionic acid |
Blood; CSF; Urine |
|
|
|
Bipolar disorder (OMIM: 125480 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00063 |
Cortisol |
Blood; CSF; Saliva; Urine |
- Walker EF, Bonsall R, Walder DJ: Plasma hormones and catecholamine metabolites in monozygotic twins discordant for psychosis. Neuropsychiatry Neuropsychol Behav Neurol. 2002 Mar;15(1):10-7. [PubMed ]
|
|
|
Bladder infections
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02039 |
2-Pyrrolidinone |
Blood |
- Tricker AR, Pfundstein B, Kalble T, Preussmann R: Secondary amine precursors to nitrosamines in human saliva, gastric juice, blood, urine and faeces. Carcinogenesis. 1992 Apr;13(4):563-8. [PubMed ]
|
| HMDB00087 |
Dimethylamine |
Blood; CSF; Saliva; Urine |
- Tricker AR, Pfundstein B, Kalble T, Preussmann R: Secondary amine precursors to nitrosamines in human saliva, gastric juice, blood, urine and faeces. Carcinogenesis. 1992 Apr;13(4):563-8. [PubMed ]
|
|
|
Bone metastases
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00452 |
L-Alpha-aminobutyric acid |
Blood; CSF; Urine |
- Tsuruta Y, Matsumoto M, Inoue H, Munemura S, Yamano S, Iguchi H: Determination of N-ethylglycine in urine of cancer patients with metastatic bone disease by HPLC using 4-(5,6-dimethoxy-2-phthalimidinyl)-2-methoxyphenylsulfonyl chloride as a fluorescent labeling reagent. Anal Sci. 2008 Dec;24(12):1629-31. [PubMed ]
|
|
|
Brain tumors
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00582 |
3,5-Diiodothyronine |
Blood; Urine |
- Pinna G, Meinhold H, Hiedra L, Thoma R, Hoell T, Graf KJ, Stoltenburg-Didinger G, Eravci M, Prengel H, Brodel O, Finke R, Baumgartner A: Elevated 3,5-diiodothyronine concentrations in the sera of patients with nonthyroidal illnesses and brain tumors. J Clin Endocrinol Metab. 1997 May;82(5):1535-42. [PubMed ]
|
| HMDB03252 |
Thromboxane B2 |
Blood; CSF; Urine |
- Walker V, Pickard JD, Smythe PJ, Perry S: Eicosanoid production by brain tumours in vivo--evidence for intracranial compartmentation. J Neurooncol. 1991 Dec;11(3):259-62. [PubMed ]
|
|
|
Cachexia
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00929 |
L-Tryptophan |
Blood; CSF; Saliva; Urine |
|
| HMDB00158 |
L-Tyrosine |
Blood; CSF; Saliva; Urine |
|
| HMDB00211 |
Myoinositol |
Blood; CSF; Urine |
|
|
|
Cadmium exposure
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00234 |
Testosterone |
Blood; CSF; Saliva; Urine |
- Zeng X, Lin T, Zhou Y, Kong Q: Alterations of serum hormone levels in male workers occupationally exposed to cadmium. J Toxicol Environ Health A. 2002 Apr 12;65(7):513-21. [PubMed ]
|
|
|
Canavan disease (OMIM: 271900 )
20 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03099 |
1-Methyluric acid |
Amniotic Fluid; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB11600 |
3-Methyladenine |
Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00044 |
Ascorbic acid |
Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00094 |
Citric acid |
Blood; CSF; Urine |
- Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51. [PubMed ]
|
| HMDB00562 |
Creatinine |
Amniotic Fluid; Blood; CSF; Saliva; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00089 |
Cytidine |
Blood; CSF; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00125 |
Glutathione |
Blood; Cellular Cytoplasm; CSF; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00157 |
Hypoxanthine |
Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00195 |
Inosine |
Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00812 |
N-Acetyl-L-aspartic acid |
Blood; CSF; Urine |
|
| HMDB01067 |
N-Acetylaspartylglutamic acid |
Blood; CSF; Urine |
- Burlina AP, Ferrari V, Divry P, Gradowska W, Jakobs C, Bennett MJ, Sewell AC, Dionisi-Vici C, Burlina AB: N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr. 1999 May;158(5):406-9. [PubMed ]
|
| HMDB00226 |
Orotic acid |
Amniotic Fluid; Blood; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB03337 |
Oxidized glutathione |
Blood; CSF |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00767 |
Pseudouridine |
Amniotic Fluid; Blood; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00254 |
Succinic acid |
Blood; CSF; Saliva; Urine |
- Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51. [PubMed ]
|
| HMDB00273 |
Thymidine |
Amniotic Fluid; Blood; CSF; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00300 |
Uracil |
Amniotic Fluid; Blood; CSF; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00289 |
Uric acid |
Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00296 |
Uridine |
Blood; CSF; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
| HMDB00292 |
Xanthine |
Blood; CSF; Urine |
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
|
|
|
Cardiac arrest
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01139 |
Prostaglandin F2a |
Blood; CSF; Urine |
- Strohmenger HU, Lindner KH, Keller A, Lindner IM, Bothner U, Georgieff M: Concentrations of prolactin and prostaglandins during and after cardiopulmonary resuscitation. Crit Care Med. 1995 Aug;23(8):1347-55. [PubMed ]
|
|
|
Cardiopulmonary bypass
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01085 |
Leukotriene B4 |
Blood; CSF; Urine |
- Pearl JM, Manning PB, McNamara JL, Saucier MM, Thomas DW: Effect of modified ultrafiltration on plasma thromboxane B2, leukotriene B4, and endothelin-1 in infants undergoing cardiopulmonary bypass. Ann Thorac Surg. 1999 Oct;68(4):1369-75. [PubMed ]
|
|
|
Cardiopulmonary resuscitation
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02886 |
6-Keto-prostaglandin F1a |
Blood; CSF; Urine |
- Strohmenger HU, Lindner KH, Keller A, Lindner IM, Bothner U, Georgieff M: Concentrations of prolactin and prostaglandins during and after cardiopulmonary resuscitation. Crit Care Med. 1995 Aug;23(8):1347-55. [PubMed ]
|
|
|
Carnosinuria (OMIM: 212200 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00033 |
Carnosine |
Blood; Urine |
- 2674258
- http://www.metagene.de/program/d.prg?mp=CARNOSINURIA
|
|
|
Celiac disease (OMIM: 212750 )
12 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02013 |
Butyrylcarnitine |
Blood; CSF |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB00651 |
Decanoylcarnitine |
Blood |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB02250 |
Dodecanoylcarnitine |
Blood |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Spiller RC, Frost PF, Stewart JS, Bloom SR, Silk DB: Delayed postprandial plasma bile acid response in coeliac patients with slow mouth-caecum transit. Clin Sci (Lond). 1987 Feb;72(2):217-23. [PubMed ]
|
| HMDB00688 |
Isovalerylcarnitine |
Blood |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB00756 |
L-Hexanoylcarnitine |
Blood |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB00791 |
L-Octanoylcarnitine |
Blood |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB00222 |
L-Palmitoylcarnitine |
Blood; Urine |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB00740 |
Lactulose |
Blood |
- Cox MA, Lewis KO, Cooper BT: Measurement of small intestinal permeability markers, lactulose, and mannitol in serum: results in celiac disease. Dig Dis Sci. 1999 Feb;44(2):402-6. [PubMed ]
|
| HMDB00824 |
Propionylcarnitine |
Blood; CSF |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB00848 |
Stearoylcarnitine |
Blood |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
| HMDB02366 |
Tiglylcarnitine |
Blood; CSF |
- Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
|
|
|
Cerebral vasospasm
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB06111 |
12-HETE |
Blood; CSF; Urine |
- Poloyac SM, Reynolds RB, Yonas H, Kerr ME: Identification and quantification of the hydroxyeicosatetraenoic acids, 20-HETE and 12-HETE, in the cerebrospinal fluid after subarachnoid hemorrhage. J Neurosci Methods. 2005 Jun 15;144(2):257-63. Epub 2004 Dec 30. [PubMed ]
|
| HMDB05998 |
20-Hydroxyeicosatetraenoic acid |
Blood; CSF; Urine |
- Poloyac SM, Reynolds RB, Yonas H, Kerr ME: Identification and quantification of the hydroxyeicosatetraenoic acids, 20-HETE and 12-HETE, in the cerebrospinal fluid after subarachnoid hemorrhage. J Neurosci Methods. 2005 Jun 15;144(2):257-63. Epub 2004 Dec 30. [PubMed ]
|
| HMDB00054 |
Bilirubin |
Bile; Blood; CSF; Urine |
- Pyne-Geithman GJ, Morgan CJ, Wagner K, Dulaney EM, Carrozzella J, Kanter DS, Zuccarello M, Clark JF: Bilirubin production and oxidation in CSF of patients with cerebral vasospasm after subarachnoid hemorrhage. J Cereb Blood Flow Metab. 2005 Aug;25(8):1070-7. [PubMed ]
|
|
|
Cerebrocortical degeneration
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01372 |
Thiamine pyrophosphate |
Blood; CSF |
- Holtershinken M, Hohling A, Witte B, Scholz H: [Thiamine and its derivates in cattle blood measured by HPLC in healthy animals, in patients suffering from CCN and in their cohorts] Dtsch Tierarztl Wochenschr. 2007 Jun;114(6):212-8. [PubMed ]
|
|
|
Cerebrotendinous xanthomatosis (OMIM: 213700 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00908 |
5alpha-Cholestanol |
Blood |
- Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed ]
|
| HMDB01170 |
Lathosterol |
Blood |
- Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed ]
|
|
|
Cervical cancer (OMIM: 603956 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03331 |
1-Methyladenosine |
Blood; Urine |
- Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ]
|
|
|
Cervical myelopathy
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00108 |
Ethanol |
Blood; CSF; Saliva; Urine |
- Meshitsuka S, Morio Y, Nagashima H, Teshima R: 1H-NMR studies of cerebrospinal fluid: endogenous ethanol in patients with cervical myelopathy. Clin Chim Acta. 2001 Oct;312(1-2):25-30. [PubMed ]
|
|
|
Cholangiocarcinoma
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03331 |
1-Methyladenosine |
Blood; Urine |
- Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ]
|
|
|
Choledochal cysts
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
|
|
|
Cholelithiasis (OMIM: 600803 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00067 |
Cholesterol |
Bile; Blood; CSF; Saliva; Urine |
- Miettinen TE, Kesaniemi YA, Gylling H, Jarvinen H, Silvennoinen E, Miettinen TA: Noncholesterol sterols in bile and stones of patients with cholesterol and pigment stones. Hepatology. 1996 Feb;23(2):274-80. [PubMed ]
|
|
|
Chronic active hepatitis
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
|
|
|
chronic infections
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB13471 |
LPS core |
Blood |
|
|
|
Chronic kidney disease
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03474 |
3,5-Diiodo-L-tyrosine |
Blood; Urine |
- Ramsden DB, Farmer M, Mohammed MN, McGonigle RS, Sheppard MC: 3,5-Diiodotyrosine and thyronine in the urine of patients with chronic renal disease. Clin Endocrinol (Oxf). 1986 May;24(5):491-5. [PubMed ]
|
| HMDB00667 |
L-Thyronine |
Blood; Urine |
- Ramsden DB, Farmer M, Mohammed MN, McGonigle RS, Sheppard MC: 3,5-Diiodotyrosine and thyronine in the urine of patients with chronic renal disease. Clin Endocrinol (Oxf). 1986 May;24(5):491-5. [PubMed ]
|
|
|
Chronic renal failure
11 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00043 |
Betaine |
Blood; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
| HMDB00562 |
Creatinine |
Amniotic Fluid; Blood; CSF; Saliva; Urine |
- Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ]
|
| HMDB00058 |
Cyclic AMP |
Blood; CSF; Urine |
- Dimitrakov D, Kumchev E, Lyutakova E, Ledzhev I, Nikolov D, Tsekov V: Cyclic adenosine monophosphate (cAMP) levels in predialysis patients with chronic renal failure. Folia Med (Plovdiv). 1997;39(1):29-33. [PubMed ]
|
| HMDB01842 |
Guanidine |
Blood; CSF; Urine |
- Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ]
|
| HMDB03157 |
Guanidinosuccinic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ]
|
| HMDB00128 |
Guanidoacetic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ]
|
| HMDB00742 |
Homocysteine |
Blood; CSF; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
| HMDB00517 |
L-Arginine |
Blood; CSF; Urine |
- Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ]
|
| HMDB04068 |
Melanin |
Blood |
- Hegedus ZL, Frank HA, Steinman TI, Altschule MD, Nayak U: Elevated levels of plasma lipofuscins in patients with chronic renal failure. Arch Int Physiol Biochim. 1988 Dec;96(5):211-21. [PubMed ]
|
| HMDB01522 |
Methylguanidine |
Blood; CSF; Saliva; Urine |
- Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ]
|
| HMDB01303 |
Zinc |
Blood; CSF; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
|
|
Cirrhosis
25 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03156 |
2,3-Butanediol |
Blood |
- Casazza JP, Frietas J, Stambuk D, Morgan MY, Veech RL: The measurement of 1,2-propanediol, D, L-2,3-butanediol and meso-2,3-butanediol in controls and alcoholic cirrhotics. Alcohol Alcohol Suppl. 1987;1:607-9. [PubMed ]
|
| HMDB01065 |
2-Hydroxyphenethylamine |
Blood; Urine |
- Yonekura T, Kamata S, Wasa M, Okada A, Yamatodani A, Watanabe T, Wada H: Simultaneous determination of plasma phenethylamine, phenylethanolamine, tyramine and octopamine by high-performance liquid chromatography using derivatization with fluorescamine. J Chromatogr. 1988 Jun 3;427(2):320-5. [PubMed ]
|
| HMDB04225 |
2-Oxoarginine |
Blood; CSF |
- Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ]
|
| HMDB00582 |
3,5-Diiodothyronine |
Blood; Urine |
- Pinna G, Meinhold H, Hiedra L, Thoma R, Hoell T, Graf KJ, Stoltenburg-Didinger G, Eravci M, Prengel H, Brodel O, Finke R, Baumgartner A: Elevated 3,5-diiodothyronine concentrations in the sera of patients with nonthyroidal illnesses and brain tumors. J Clin Endocrinol Metab. 1997 May;82(5):1535-42. [PubMed ]
|
| HMDB01527 |
3-Methylthiopropionic acid |
Urine |
- Yoshida Y: [Analysis of methionine metabolism studied by the gas chromatographic determination of 3-methylthiopropionate in urine and its clinical application] Hokkaido Igaku Zasshi. 1985 Mar;60(2):183-94. [PubMed ]
|
| HMDB03464 |
4-Guanidinobutanoic acid |
Blood; CSF; Urine |
|
| HMDB00908 |
5alpha-Cholestanol |
Blood |
- Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed ]
|
| HMDB01496 |
7a-Hydroxycholesterol |
Blood; CSF |
- Hahn C, Reichel C, von Bergmann K: Serum concentration of 7 alpha-hydroxycholesterol as an indicator of bile acid synthesis in humans. J Lipid Res. 1995 Sep;36(9):2059-66. [PubMed ]
|
| HMDB03148 |
Argininic acid |
Blood |
- Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ]
|
| HMDB00653 |
Cholesterol sulfate |
Blood |
- Tamasawa N, Tamasawa A, Takebe K: Higher levels of plasma cholesterol sulfate in patients with liver cirrhosis and hypercholesterolemia. Lipids. 1993 Sep;28(9):833-6. [PubMed ]
|
| HMDB00619 |
Cholic acid |
Bile; Blood; Urine |
- Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ]
|
| HMDB00064 |
Creatine |
Blood; CSF; Urine |
- Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ]
|
| HMDB01045 |
Enkephalin L |
Blood |
- Thornton JR, Losowsky MS: Plasma leucine enkephalin is increased in liver disease. Gut. 1989 Oct;30(10):1392-5. [PubMed ]
|
| HMDB01842 |
Guanidine |
Blood; CSF; Urine |
- Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ]
|
| HMDB03157 |
Guanidinosuccinic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ]
|
| HMDB00670 |
Homo-L-arginine |
Blood; CSF; Urine |
- Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ]
|
| HMDB00191 |
L-Aspartic acid |
Blood; CSF; Saliva; Urine |
- Cynober LA: Plasma amino acid levels with a note on membrane transport: characteristics, regulation, and metabolic significance. Nutrition. 2002 Sep;18(9):761-6. [PubMed ]
|
| HMDB01170 |
Lathosterol |
Blood |
- Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed ]
|
| HMDB00673 |
Linoleic acid |
Blood; CSF; Urine |
- Szebeni J, Eskelson C, Sampliner R, Hartmann B, Griffin J, Dormandy T, Watson RR: Plasma fatty acid pattern including diene-conjugated linoleic acid in ethanol users and patients with ethanol-related liver disease. Alcohol Clin Exp Res. 1986 Dec;10(6):647-50. [PubMed ]
|
| HMDB03227 |
Methanethiol |
Blood |
- McClain CJ, Zieve L, Doizaki WM, Gilberstadt S, Onstad GR: Blood methanethiol in alcoholic liver disease with and without hepatic encephalopathy. Gut. 1980 Apr;21(4):318-23. [PubMed ]
|
| HMDB04825 |
p-Octopamine |
Blood; Urine |
- Yonekura T, Kamata S, Wasa M, Okada A, Yamatodani A, Watanabe T, Wada H: Simultaneous determination of plasma phenethylamine, phenylethanolamine, tyramine and octopamine by high-performance liquid chromatography using derivatization with fluorescamine. J Chromatogr. 1988 Jun 3;427(2):320-5. [PubMed ]
|
| HMDB01881 |
Propylene glycol |
Blood; CSF; Saliva; Urine |
- Casazza JP, Frietas J, Stambuk D, Morgan MY, Veech RL: The measurement of 1,2-propanediol, D, L-2,3-butanediol and meso-2,3-butanediol in controls and alcoholic cirrhotics. Alcohol Alcohol Suppl. 1987;1:607-9. [PubMed ]
|
| HMDB02639 |
Sulfolithocholylglycine |
Blood; Urine |
- Kobayashi N, Katsumata H, Uto Y, Goto J, Niwa T, Kobayashi K, Mizuuchi Y: A monoclonal antibody-based enzyme-linked immunosorbent assay of glycolithocholic acid sulfate in human urine for liver function test. Steroids. 2002 Sep;67(10):827-33. [PubMed ]
|
| HMDB00306 |
Tyramine |
Blood; Urine |
- Yonekura T, Kamata S, Wasa M, Okada A, Yamatodani A, Watanabe T, Wada H: Simultaneous determination of plasma phenethylamine, phenylethanolamine, tyramine and octopamine by high-performance liquid chromatography using derivatization with fluorescamine. J Chromatogr. 1988 Jun 3;427(2):320-5. [PubMed ]
|
| HMDB00294 |
Urea |
Blood; Cellular Cytoplasm; CSF; Urine |
- Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ]
|
|
|
CNS infections
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00684 |
L-Kynurenine |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
| HMDB00845 |
Neopterin |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
| HMDB00232 |
Quinolinic acid |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
|
|
CNS tumors
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00684 |
L-Kynurenine |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
| HMDB00845 |
Neopterin |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
| HMDB00232 |
Quinolinic acid |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
|
|
Cognitive disorders
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01490 |
Vanylglycol |
Blood; CSF; Urine |
- Hildebrand J, Bourgeois F, Buyse M, Przedborski S, Goldman S: Reproducibility of monoamine metabolite measurements in human cerebrospinal fluid. Acta Neurol Scand. 1990 May;81(5):427-30. [PubMed ]
|
|
|
Colitis (OMIM: 191390 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04866 |
Lactosylceramide (d18:1/12:0) |
Blood |
- Stevens CR, Oberholzer VG, Walker-Smith JA, Phillips AD: Lactosylceramide in inflammatory bowel disease: a biochemical study. Gut. 1988 May;29(5):580-7. [PubMed ]
|
|
|
Colorectal cancer (OMIM: 114500 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03331 |
1-Methyladenosine |
Blood; Urine |
- Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ]
|
|
|
Congenital adrenal hyperplasia (OMIM: 201910 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00315 |
16-a-Hydroxypregnenolone |
Blood; Urine |
- Homoki J, Teller WM: Increased urinary excretion of total 16 alpha-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Klin Wochenschr. 1982 Apr 15;60(8):407-10. [PubMed ]
|
| HMDB04030 |
21-Deoxycortisol |
Blood |
- Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J: Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab. 2007 Jul;92(7):2581-9. Epub 2007 Apr 24. [PubMed ]
|
|
|
Continuous ambulatory peritoneal dialysis
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00043 |
Betaine |
Blood; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
| HMDB00870 |
Histamine |
Blood; CSF; Urine |
- Gill DS, Fonseca VA, Barradas MA, Balliod R, Moorhead JF, Dandona P: Plasma histamine in patients with chronic renal failure and nephrotic syndrome. J Clin Pathol. 1991 Mar;44(3):243-5. [PubMed ]
|
| HMDB00742 |
Homocysteine |
Blood; CSF; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
| HMDB01303 |
Zinc |
Blood; CSF; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
|
|
Convulsion
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00715 |
Kynurenic acid |
Blood; CSF; Urine |
- Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ]
|
| HMDB00070 |
Pipecolic acid |
Amniotic Fluid; Blood; CSF; Urine |
- Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ]
|
| HMDB00232 |
Quinolinic acid |
Blood; CSF; Urine |
- Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ]
|
|
|
Coronary artery disease
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00195 |
Inosine |
Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine |
- Fazekas L, Horkay F, Kekesi V, Huszar E, Barat E, Fazekas R, Szabo T, Juhasz-Nagy A, Naszlady A: Enhanced accumulation of pericardial fluid adenosine and inosine in patients with coronary artery disease. Life Sci. 1999;65(10):1005-12. [PubMed ]
|
| HMDB04385 |
Lipoxin A4 |
Blood |
- Brezinski DA, Nesto RW, Serhan CN: Angioplasty triggers intracoronary leukotrienes and lipoxin A4. Impact of aspirin therapy. Circulation. 1992 Jul;86(1):56-63. [PubMed ]
|
|
|
Coronary heart disease
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03125 |
Hydrogen peroxide |
Blood |
- Kazmierczak M, Wysocki H, Wykretowicz A, Minczykowski A: Estimation of hydrogen peroxide plasma levels in patients evaluated for coronary heart disease using dipyridamole infusion followed by SPECT. Coron Artery Dis. 1995 Jan;6(1):65-9. [PubMed ]
|
| HMDB01452 |
Thromboxane A2 |
Blood; Urine |
- Akimova EV: Prostacyclin and thromboxane A2 levels in children and adolescents with an inherited predisposition to coronary heart disease: a family study. Coron Artery Dis. 1994 Sep;5(9):761-5. [PubMed ]
|
|
|
Cortical myoclonus
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01490 |
Vanylglycol |
Blood; CSF; Urine |
- Leuzzi V, Di Sabato ML, Zollino M, Montanaro ML, Seri S: Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. Neurology. 2004 Nov 23;63(10):1968-70. [PubMed ]
|
|
|
Cresol poisoning IBS
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02048 |
m-Cresol |
Blood; Urine |
- Monma-Ohtaki J, Maeno Y, Nagao M, Iwasa M, Koyama H, Isobe I, Seko-Nakamura Y, Tsuchimochi T, Matsumoto T: An autopsy case of poisoning by massive absorption of cresol a short time before death. Forensic Sci Int. 2002 Mar 28;126(1):77-81. [PubMed ]
|
| HMDB02055 |
o-Cresol |
Blood |
- Boatto G, Nieddu M, Carta A, Pau A, Lorenzoni S, Manconi P, Serra D: Determination of phenol and o-cresol by GC/MS in a fatal poisoning case. Forensic Sci Int. 2004 Jan 28;139(2-3):191-4. [PubMed ]
|
|
|
Creutzfeldt-Jakob disease (OMIM: 123400 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00742 |
Homocysteine |
Blood; CSF; Urine |
|
|
|
Critical illnesses
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00195 |
Inosine |
Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine |
- Jabs CM, Sigurdsson GH, Neglen P: Plasma levels of high-energy compounds compared with severity of illness in critically ill patients in the intensive care unit. Surgery. 1998 Jul;124(1):65-72. [PubMed ]
|
|
|
Crohn's disease (OMIM: 266600 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00054 |
Bilirubin |
Bile; Blood; CSF; Urine |
- Lapidus A, Akerlund JE, Einarsson C: Gallbladder bile composition in patients with Crohn 's disease. World J Gastroenterol. 2006 Jan 7;12(1):70-4. [PubMed ]
|
| HMDB00098 |
D-Xylose |
Blood; Urine |
- Ehrenpreis ED, Salvino M, Craig RM: Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption. J Clin Gastroenterol. 2001 Jul;33(1):36-40. [PubMed ]
|
|
|
Cushing's Syndrome
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03955 |
19-Hydroxyandrost-4-ene-3,17-dione |
Blood |
- Mune T, Morita H, Yasuda K, Murayama M, Yamakita N, Miura K: Elevated plasma 19-hydroxyandrostenedione levels in Cushing's disease: stimulation with ACTH and inhibition with metyrapone. Clin Endocrinol (Oxf). 1993 Mar;38(3):265-72. [PubMed ]
|
| HMDB00053 |
Androstenedione |
Blood; CSF; Urine |
- Mune T, Morita H, Yasuda K, Murayama M, Yamakita N, Miura K: Elevated plasma 19-hydroxyandrostenedione levels in Cushing's disease: stimulation with ACTH and inhibition with metyrapone. Clin Endocrinol (Oxf). 1993 Mar;38(3):265-72. [PubMed ]
|
|
|
Cystathioninuria (OMIM: 219500 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00099 |
L-Cystathionine |
Blood; CSF; Urine |
- Sugahara K, Ohta J, Takemura M, Kodama H: Determination of cystathionine and perhydro-1,4-thiazepine-3,5-dicarboxylic acid in the urine of a patient with cystathioninuria using column liquid chromatography-mass spectrometry. J Chromatogr. 1992 Sep 2;579(2):318-23. [PubMed ]
|
|
|
Cystic fibrosis (OMIM: 219700 )
6 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00518 |
Chenodeoxycholic acid |
Bile; Blood; Urine |
- Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ]
|
| HMDB00619 |
Cholic acid |
Bile; Blood; Urine |
- Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ]
|
| HMDB00626 |
Deoxycholic acid |
Bile; Blood; Urine |
- Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ]
|
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
|
| HMDB00761 |
Lithocholic acid |
Bile; Blood; Urine |
- Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ]
|
| HMDB00946 |
Ursodeoxycholic acid |
Blood; Urine |
- Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ]
|
|
|
Cystinuria (OMIM: 220100 )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00517 |
L-Arginine |
Blood; CSF; Urine |
|
| HMDB00192 |
L-Cystine |
Blood; CSF; Urine |
- 8890399
- http://www.metagene.de/program/d.prg?mp=CYSTINURIA
|
| HMDB00182 |
L-Lysine |
Blood; CSF; Saliva; Urine |
|
| HMDB00214 |
Ornithine |
Blood; CSF; Saliva; Urine |
|
|
|
Cytochrome C oxidase deficiency (OMIM: 220110 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00765 |
Mannitol |
Blood; CSF; Urine |
- Shetty HU, Holloway HW, Rapoport SI: Capillary gas chromatography combined with ion trap detection for quantitative profiling of polyols in cerebrospinal fluid and plasma. Anal Biochem. 1995 Jan 1;224(1):279-85. [PubMed ]
|
|
|
D-2-hydroxyglutaric aciduria (OMIM: 600721 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00606 |
D-2-Hydroxyglutaric acid |
Blood; CSF; Urine |
- Gibson KM, ten Brink HJ, Schor DS, Kok RM, Bootsma AH, Hoffmann GF, Jakobs C: Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res. 1993 Sep;34(3):277-80. [PubMed ]
|
|
|
D-Glyceric acidemia (OMIM: 605899 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00139 |
Glyceric acid |
Blood; CSF; N/A; Urine |
|
| HMDB00123 |
Glycine |
Bile; Blood; CSF; Saliva; Urine |
|
|
|
Degenerative disc disease
6 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00157 |
Hypoxanthine |
Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine |
- Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ]
|
| HMDB00195 |
Inosine |
Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine |
- Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ]
|
| HMDB00273 |
Thymidine |
Amniotic Fluid; Blood; CSF; Urine |
- Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ]
|
| HMDB00289 |
Uric acid |
Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine |
- Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ]
|
| HMDB00296 |
Uridine |
Blood; CSF; Urine |
- Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ]
|
| HMDB00292 |
Xanthine |
Blood; CSF; Urine |
- Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ]
|
|
|
Dementia (OMIM: 167320 )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00742 |
Homocysteine |
Blood; CSF; Urine |
- Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ]
|
| HMDB04207 |
L-a-glutamyl-L-Lysine |
CSF |
- Jeitner TM, Bogdanov MB, Matson WR, Daikhin Y, Yudkoff M, Folk JE, Steinman L, Browne SE, Beal MF, Blass JP, Cooper AJ: N(epsilon)-(gamma-L-glutamyl)-L-lysine (GGEL) is increased in cerebrospinal fluid of patients with Huntington's disease. J Neurochem. 2001 Dec;79(5):1109-12. [PubMed ]
|
| HMDB00574 |
L-Cysteine |
Blood; CSF; Urine |
- Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ]
|
| HMDB00190 |
L-Lactic acid |
Bile; Blood; Cellular Cytoplasm; CSF; Urine |
- Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed ]
|
|
|
Demyelinating polyneuropathy
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01419 |
24-Hydroxycholesterol |
Blood; CSF |
- Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ]
|
| HMDB02103 |
27-Hydroxycholesterol |
Blood; CSF |
- Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ]
|
|
|
Dengue fever
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00161 |
L-Alanine |
Blood; CSF; Saliva; Urine |
- Klassen P, Furst P, Schulz C, Mazariegos M, Solomons NW: Plasma free amino acid concentrations in healthy Guatemalan adults and in patients with classic dengue. Am J Clin Nutr. 2001 Mar;73(3):647-52. [PubMed ]
|
| HMDB00177 |
L-Histidine |
Blood; CSF; Saliva; Urine |
- Klassen P, Furst P, Schulz C, Mazariegos M, Solomons NW: Plasma free amino acid concentrations in healthy Guatemalan adults and in patients with classic dengue. Am J Clin Nutr. 2001 Mar;73(3):647-52. [PubMed ]
|
| HMDB00159 |
L-Phenylalanine |
Blood; CSF; Saliva; Urine |
- Klassen P, Furst P, Schulz C, Mazariegos M, Solomons NW: Plasma free amino acid concentrations in healthy Guatemalan adults and in patients with classic dengue. Am J Clin Nutr. 2001 Mar;73(3):647-52. [PubMed ]
|
|
|
Depersonalization disorder
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01547 |
Corticosterone |
Blood |
- Nuller YL, Morozova MG, Kushnir ON, Hamper N: Effect of naloxone therapy on depersonalization: a pilot study. J Psychopharmacol. 2001 Jun;15(2):93-5. [PubMed ]
|
| HMDB02802 |
Cortisone |
Blood; Urine |
- Nuller YL, Morozova MG, Kushnir ON, Hamper N: Effect of naloxone therapy on depersonalization: a pilot study. J Psychopharmacol. 2001 Jun;15(2):93-5. [PubMed ]
|
|
|
Dermal fibroproliferative disorder
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00898 |
1-Methylhistamine |
Blood; CSF; Urine |
- Tredget EE, Iwashina T, Scott PG, Ghahary A: Determination of plasma Ntau-methylhistamine in vivo by isotope dilution using benchtop gas chromatography-mass spectrometry. J Chromatogr B Biomed Sci Appl. 1997 Jun 20;694(1):1-9. [PubMed ]
|
|
|
Diabetes mellitus type 1 (OMIM: 222100 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00190 |
L-Lactic acid |
Bile; Blood; Cellular Cytoplasm; CSF; Urine |
- Blomqvist G, Alvarsson M, Grill V, Von Heijne G, Ingvar M, Thorell JO, Stone-Elander S, Widen L, Ekberg K: Effect of acute hyperketonemia on the cerebral uptake of ketone bodies in nondiabetic subjects and IDDM patients. Am J Physiol Endocrinol Metab. 2002 Jul;283(1):E20-8. [PubMed ]
|
|
|
Diabetes mellitus type 2 (OMIM: 125853 )
27 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00011 |
(R)-3-Hydroxybutyric acid |
Blood; CSF; Urine |
|
| HMDB00336 |
(R)-3-Hydroxyisobutyric acid |
Blood; CSF |
- Avogaro A, Bier DM: Contribution of 3-hydroxyisobutyrate to the measurement of 3-hydroxybutyrate in human plasma: comparison of enzymatic and gas-liquid chromatography-mass spectrometry assays in normal and in diabetic subjects. J Lipid Res. 1989 Nov;30(11):1811-7. [PubMed ]
|
| HMDB00023 |
(S)-3-Hydroxyisobutyric acid |
Blood; CSF; Urine |
- Avogaro A, Bier DM: Contribution of 3-hydroxyisobutyrate to the measurement of 3-hydroxybutyrate in human plasma: comparison of enzymatic and gas-liquid chromatography-mass spectrometry assays in normal and in diabetic subjects. J Lipid Res. 1989 Nov;30(11):1811-7. [PubMed ]
|
| HMDB02712 |
1,5-Anhydrosorbitol |
Blood; CSF |
|
| HMDB04327 |
1-Butanol |
Blood |
- Liebich HM, Buelow HJ, Kallmayer R: Quantification of endogenous aliphatic alcohols in serum and urine. J Chromatogr. 1982 Apr 30;239:343-9. [PubMed ]
|
| HMDB00001 |
1-Methylhistidine |
Blood; CSF; Saliva; Urine |
- Tuma P, Samcova E, Balinova P: Determination of 3-methylhistidine and 1-methylhistidine in untreated urine samples by capillary electrophoresis. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jul 5;821(1):53-9. [PubMed ]
|
| HMDB00357 |
3-Hydroxybutyric acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- del Carmen Crespillo M, Olveira G, de Adana MS, Rojo-Martinez G, Garcia-Aleman J, Olvera P, Soriguer F, Munoz A: Metabolic effects of an enteral nutrition formula for diabetes: comparison with standard formulas in patients with type 1 diabetes. Clin Nutr. 2003 Oct;22(5):483-7. [PubMed ]
|
| HMDB00479 |
3-Methylhistidine |
Blood; CSF; Urine |
- Tuma P, Samcova E, Balinova P: Determination of 3-methylhistidine and 1-methylhistidine in untreated urine samples by capillary electrophoresis. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jul 5;821(1):53-9. [PubMed ]
|
| HMDB04814 |
4-Heptanone |
Blood; Urine |
- Wahl HG, Hoffmann A, Luft D, Liebich HM: Analysis of volatile organic compounds in human urine by headspace gas chromatography-mass spectrometry with a multipurpose sampler. J Chromatogr A. 1999 Jun 25;847(1-2):117-25. [PubMed ]
|
| HMDB02032 |
8-Hydroxyguanine |
Blood; CSF |
- Shin CS, Moon BS, Park KS, Kim SY, Park SJ, Chung MH, Lee HK: Serum 8-hydroxy-guanine levels are increased in diabetic patients. Diabetes Care. 2001 Apr;24(4):733-7. [PubMed ]
|
| HMDB00060 |
Acetoacetic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
|
| HMDB01659 |
Acetone |
Blood; CSF; Urine |
- Bales JR, Higham DP, Howe I, Nicholson JK, Sadler PJ: Use of high-resolution proton nuclear magnetic resonance spectroscopy for rapid multi-component analysis of urine. Clin Chem. 1984 Mar;30(3):426-32. [PubMed ]
|
| HMDB00599 |
Chromium |
Blood; CSF; Urine |
- Stupar J, Vrtovec M, Dolinsek F: Longitudinal hair chromium profiles of elderly subjects with normal glucose tolerance and type 2 diabetes mellitus. Metabolism. 2007 Jan;56(1):94-104. [PubMed ]
|
| HMDB00660 |
D-Fructose |
Blood; CSF; Urine |
- Kawasaki T, Akanuma H, Yamanouchi T: Increased fructose concentrations in blood and urine in patients with diabetes. Diabetes Care. 2002 Feb;25(2):353-7. [PubMed ]
|
| HMDB00122 |
D-Glucose |
Blood; Breast Milk; CSF; Saliva; Urine |
|
| HMDB01311 |
D-Lactic acid |
Blood; Urine |
- McLellan AC, Phillips SA, Thornalley PJ: Fluorimetric assay of D-lactate. Anal Biochem. 1992 Oct;206(1):12-6. [PubMed ]
|
| HMDB00087 |
Dimethylamine |
Blood; CSF; Saliva; Urine |
- Zhang AQ, Mitchell SC, Smith RL: Dimethylamine in human urine. Clin Chim Acta. 1995 Jan 16;233(1-2):81-8. [PubMed ]
|
| HMDB00623 |
Dodecanedioic acid |
Blood |
- Greco AV, Mingrone G, Capristo E, Benedetti G, De Gaetano A, Gasbarrini G: The metabolic effect of dodecanedioic acid infusion in non-insulin-dependent diabetic patients. Nutrition. 1998 Apr;14(4):351-7. [PubMed ]
|
| HMDB00153 |
Estriol |
Amniotic Fluid; Blood; Urine |
- Giussi GA, Ballejo G, Benedetti WL: Estriol serum levels, neonatal vitality and stromal villous edema in diabetic pregnancies. Acta Diabetol Lat. 1979 Apr-Jun;16(2):105-10. [PubMed ]
|
| HMDB02030 |
Fructosamine |
Blood; Saliva |
- Guevara-Aguirre J, Guevara-Aguirre M, Saavedra J, Bernstein G, Rosenbloom AL: Comparison of oral insulin spray and subcutaneous regular insulin at mealtime in type 1 diabetes. Diabetes Technol Ther. 2007 Aug;9(4):372-6. [PubMed ]
|
| HMDB00131 |
Glycerol |
Blood; CSF; Urine |
- Blomqvist G, Alvarsson M, Grill V, Von Heijne G, Ingvar M, Thorell JO, Stone-Elander S, Widen L, Ekberg K: Effect of acute hyperketonemia on the cerebral uptake of ketone bodies in nondiabetic subjects and IDDM patients. Am J Physiol Endocrinol Metab. 2002 Jul;283(1):E20-8. [PubMed ]
|
| HMDB10366 |
Hyaluronan |
Blood |
- Mine S, Okada Y, Kawahara C, Tabata T, Tanaka Y: Serum hyaluronan concentration as a marker of angiopathy in patients with diabetes mellitus. Endocr J. 2006 Dec;53(6):761-6. Epub 2006 Sep 12. [PubMed ]
|
| HMDB00062 |
L-Carnitine |
Blood; CSF; Urine |
- Hoppel CL, Genuth SM: Urinary excretion of acetylcarnitine during human diabetic and fasting ketosis. Am J Physiol. 1982 Aug;243(2):E168-72. [PubMed ]
|
| HMDB01167 |
Pyruvaldehyde |
Blood; Urine |
- Khuhawar MY, Zardari LA, Laghari AJ: Capillary gas chromatographic determination of methylglyoxal from serum of diabetic patients by precolumn derivatization with 1,2-diamonopropane. J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Sep 15;873(1):15-9. Epub 2008 May 17. [PubMed ]
|
| HMDB01185 |
S-Adenosylmethionine |
Blood; CSF; Urine |
- Hoppel CL, Genuth SM: Urinary excretion of acetylcarnitine during human diabetic and fasting ketosis. Am J Physiol. 1982 Aug;243(2):E168-72. [PubMed ]
|
| HMDB06088 |
Scyllitol |
Blood; CSF |
- Ostlund RE Jr, McGill JB, Herskowitz I, Kipnis DM, Santiago JV, Sherman WR: D-chiro-inositol metabolism in diabetes mellitus. Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):9988-92. [PubMed ]
|
| HMDB00289 |
Uric acid |
Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine |
- Costa A, Iguala I, Bedini J, Quinto L, Conget I: Uric acid concentration in subjects at risk of type 2 diabetes mellitus: relationship to components of the metabolic syndrome. Metabolism. 2002 Mar;51(3):372-5. [PubMed ]
|
|
|
Dihydropyrimidinase deficiency (OMIM: 222748 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00079 |
Dihydrothymine |
CSF; Urine |
- van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM: Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007 Jun;91(2):157-64. Epub 2007 Mar 26. [PubMed ]
|
| HMDB00026 |
Ureidopropionic acid |
CSF; Urine |
- van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM: Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007 Jun;91(2):157-64. Epub 2007 Mar 26. [PubMed ]
|
|
|
Dihydropyrimidine dehydrogenase deficiency (OMIM: 274270 )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00056 |
Beta-Alanine |
Blood; CSF; Urine |
- Van Kuilenburg AB, Stroomer AE, Van Lenthe H, Abeling NG, Van Gennip AH: New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? Biochem J. 2004 Apr 1;379(Pt 1):119-24. [PubMed ]
|
| HMDB00076 |
Dihydrouracil |
Blood; CSF; Urine |
|
| HMDB00262 |
Thymine |
Blood; CSF; Urine |
|
| HMDB00300 |
Uracil |
Amniotic Fluid; Blood; CSF; Urine |
|
|
|
Dimethyl sulfide poisoning
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02303 |
Dimethylsulfide |
Blood; CSF |
- Terazawa K, Kaji H, Akabane H, Takatori T: Determination of dimethyl sulphide in blood and adipose tissue by headspace gas analysis. J Chromatogr. 1991 Apr 19;565(1-2):453-6. [PubMed ]
|
|
|
Dimethyl sulfone supplementation
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04983 |
Dimethyl sulfone |
Blood; CSF; Urine |
- Engelke UF, Tangerman A, Willemsen MA, Moskau D, Loss S, Mudd SH, Wevers RA: Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR. NMR Biomed. 2005 Aug;18(5):331-6. [PubMed ]
|
|
|
Down's syndrome (OMIM: 190685 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00118 |
Homovanillic acid |
Blood; CSF; Urine |
- Kay AD, Schapiro MB, Riker AK, Haxby JV, Rapoport SI, Cutler NR: Cerebrospinal fluid monoaminergic metabolites are elevated in adults with Down's syndrome. Ann Neurol. 1987 Apr;21(4):408-11. [PubMed ]
|
|
|
Eczema (OMIM: 603165 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01198 |
Leukotriene C4 |
Blood |
- Hua Z, Fei H, Mingming X: Evaluation and interference of serum and skin lesion levels of leukotrienes in patients with eczema. Prostaglandins Leukot Essent Fatty Acids. 2006 Jul;75(1):51-5. Epub 2006 Jun 6. [PubMed ]
|
| HMDB02200 |
Leukotriene E4 |
Blood; Urine |
- Hua Z, Fei H, Mingming X: Evaluation and interference of serum and skin lesion levels of leukotrienes in patients with eczema. Prostaglandins Leukot Essent Fatty Acids. 2006 Jul;75(1):51-5. Epub 2006 Jun 6. [PubMed ]
|
|
|
Encephalitis
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01336 |
3,4-Dihydroxybenzeneacetic acid |
Blood; CSF; Urine |
- Kalita J, Kumar S, Vijaykumar K, Palit G, Misra UK: A study of CSF catecholamine and its metabolites in acute and convalescent period of encephalitis. J Neurol Sci. 2007 Jan 15;252(1):62-6. Epub 2006 Nov 28. [PubMed ]
|
|
|
Endometrial cancer (OMIM: 608089 )
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00561 |
B-Carotene |
Blood |
- Jeong NH, Song ES, Lee JM, Lee KB, Kim MK, Yun YM, Lee JK, Son SK, Lee JP, Kim JH, Hur SY, Kwon YI: Preoperative levels of plasma micronutrients are related to endometrial cancer risk. Acta Obstet Gynecol Scand. 2009;88(4):434-9. [PubMed ]
|
| HMDB01492 |
Gama-Tocopherol |
Blood; Breast Milk |
- Jeong NH, Song ES, Lee JM, Lee KB, Kim MK, Yun YM, Lee JK, Son SK, Lee JP, Kim JH, Hur SY, Kwon YI: Preoperative levels of plasma micronutrients are related to endometrial cancer risk. Acta Obstet Gynecol Scand. 2009;88(4):434-9. [PubMed ]
|
| HMDB03000 |
Lycopene |
Blood |
- Jeong NH, Song ES, Lee JM, Lee KB, Kim MK, Yun YM, Lee JK, Son SK, Lee JP, Kim JH, Hur SY, Kwon YI: Preoperative levels of plasma micronutrients are related to endometrial cancer risk. Acta Obstet Gynecol Scand. 2009;88(4):434-9. [PubMed ]
|
|
|
Epilepsy
27 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00763 |
5-Hydroxyindoleacetic acid |
Blood; CSF; Urine |
- Shaywitz BA, Cohen DJ, Bowers MB: Reduced cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in children with epilepsy. Neurology. 1975 Jan;25(1):72-9. [PubMed ]
|
| HMDB00538 |
Adenosine triphosphate |
Blood; Cellular Cytoplasm; CSF |
- Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ]
|
| HMDB01341 |
ADP |
Blood; Cellular Cytoplasm; CSF |
- Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ]
|
| HMDB00904 |
Citrulline |
Blood; CSF; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00112 |
Gamma-Aminobutyric acid |
Blood; CSF; Saliva; Urine |
|
| HMDB01201 |
Guanosine diphosphate |
Blood; CSF |
- Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ]
|
| HMDB01273 |
Guanosine triphosphate |
Blood; CSF |
- Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ]
|
| HMDB00118 |
Homovanillic acid |
Blood; CSF; Urine |
|
| HMDB02061 |
Hyaluronic acid |
Blood; CSF |
- Perosa SR, Porcionatto MA, Cukiert A, Martins JR, Amado D, Nader HB, Cavalheiro EA, Leite JP, Naffah-Mazzacoratti MG: Extracellular matrix components are altered in the hippocampus, cortex, and cerebrospinal fluid of patients with mesial temporal lobe epilepsy. Epilepsia. 2002;43 Suppl 5:159-61. [PubMed ]
|
| HMDB00161 |
L-Alanine |
Blood; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00168 |
L-Asparagine |
Blood; CSF; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00191 |
L-Aspartic acid |
Blood; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00148 |
L-Glutamic acid |
Blood; Cellular Cytoplasm; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00641 |
L-Glutamine |
Blood; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00177 |
L-Histidine |
Blood; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00172 |
L-Isoleucine |
Blood; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00687 |
L-Leucine |
Blood; CSF; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00696 |
L-Methionine |
Blood; CSF; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00159 |
L-Phenylalanine |
Blood; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00167 |
L-Threonine |
Blood; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00929 |
L-Tryptophan |
Blood; CSF; Saliva; Urine |
|
| HMDB00158 |
L-Tyrosine |
Blood; CSF; Saliva; Urine |
|
| HMDB00883 |
L-Valine |
Blood; CSF; Saliva; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00020 |
p-Hydroxyphenylacetic acid |
Blood; CSF; Saliva; Urine |
- Kobayashi K, Koide Y, Yoshino K, Shohmori T: [P-hydroxyphenylacetic acid concentrations in cerebrospinal fluid] No To Shinkei. 1982 Aug;34(8):769-74. [PubMed ]
|
| HMDB00251 |
Taurine |
Bile; Blood; CSF; Urine |
- Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
|
| HMDB00027 |
Tetrahydrobiopterin |
Blood; CSF |
- Cady EB, Lorek A, Penrice J, Reynolds EO, Iles RA, Burns SP, Coutts GA, Cowan FM: Detection of propan-1,2-diol in neonatal brain by in vivo proton magnetic resonance spectroscopy. Magn Reson Med. 1994 Dec;32(6):764-7. [PubMed ]
|
| HMDB01490 |
Vanylglycol |
Blood; CSF; Urine |
- Botez MI, Young SN: Effects of anticonvulsant treatment and low levels of folate and thiamine on amine metabolites in cerebrospinal fluid. Brain. 1991 Feb;114 ( Pt 1A):333-48. [PubMed ]
|
|
|
Essential hypertension
6 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01388 |
Alpha-Linolenic acid |
Blood; Urine |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB01043 |
Arachidonic acid |
Blood; CSF; Urine |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB01539 |
Dimethyl-L-arginine |
Blood; CSF; Urine |
- Surdacki A, Nowicki M, Sandmann J, Tsikas D, Boeger RH, Bode-Boeger SM, Kruszelnicka-Kwiatkowska O, Kokot F, Dubiel JS, Froelich JC: Reduced urinary excretion of nitric oxide metabolites and increased plasma levels of asymmetric dimethylarginine in men with essential hypertension. J Cardiovasc Pharmacol. 1999 Apr;33(4):652-8. [PubMed ]
|
| HMDB02183 |
Docosahexaenoic acid |
Blood; CSF; Urine |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB01999 |
Eicosapentaenoic acid |
Blood |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB00673 |
Linoleic acid |
Blood; CSF; Urine |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
|
|
Ethanol intoxication
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00190 |
L-Lactic acid |
Bile; Blood; Cellular Cytoplasm; CSF; Urine |
- Fulop M, Bock J, Ben-Ezra J, Antony M, Danzig J, Gage JS: Plasma lactate and 3-hydroxybutyrate levels in patients with acute ethanol intoxication. Am J Med. 1986 Feb;80(2):191-4. [PubMed ]
|
|
|
Ethylene glycol poisoning
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00115 |
Glycolic acid |
Blood; CSF; Urine |
- Jacobsen D, Hewlett TP, Webb R, Brown ST, Ordinario AT, McMartin KE: Ethylene glycol intoxication: evaluation of kinetics and crystalluria. Am J Med. 1988 Jan;84(1):145-52. [PubMed ]
|
|
|
Eucalyptol exposure
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04472 |
Eucalyptol |
Blood |
- Jager W, Nasel B, Nasel C, Binder R, Stimpfl T, Vycudilik W, Buchbauer G: Pharmacokinetic studies of the fragrance compound 1,8-cineol in humans during inhalation. Chem Senses. 1996 Aug;21(4):477-80. [PubMed ]
|
|
|
Fabry disease (OMIM: 301500 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04948 |
Ceramide (d18:1/9Z-18:1) |
Blood |
- Groener JE, Poorthuis BJ, Kuiper S, Helmond MT, Hollak CE, Aerts JM: HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma. Clin Chem. 2007 Apr;53(4):742-7. Epub 2007 Mar 1. [PubMed ]
|
|
|
Familial mediterranean fever
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00490 |
Etiocholanolone |
Blood; Urine |
- George JM, Wolff SM, Diller E, Bartter FC: Recurrent fever of unknown etiology: failure to demonstrate association between fever and plasma unconjugated etiocholanolone. J Clin Invest. 1969 Mar;48(3):558-63. [PubMed ]
|
|
|
Fanconi syndrome
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01051 |
Glyceraldehyde |
Blood; Urine |
- Jonas AJ, Lin SN, Conley SB, Schneider JA, Williams JC, Caprioli RC: Urine glyceraldehyde excretion is elevated in the renal Fanconi syndrome. Kidney Int. 1989 Jan;35(1):99-104. [PubMed ]
|
|
|
Fatty Acid Oxidation disorder
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00387 |
3-Hydroxydodecanoic acid |
Blood |
- Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ: Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. Clin Chem. 2000 Feb;46(2):149-55. [PubMed ]
|
|
|
Febrile seizures (OMIM: 604352 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00112 |
Gamma-Aminobutyric acid |
Blood; CSF; Saliva; Urine |
- Rating D, Siemes H, Loscher W: Low CSF GABA concentration in children with febrile convulsions, untreated epilepsy, and meningitis. J Neurol. 1983;230(4):217-25. [PubMed ]
|
| HMDB00175 |
Inosinic acid |
Blood; Cellular Cytoplasm; CSF |
- Rodriguez-Nunez A, Cid E, Rodriguez-Garcia J, Camina F, Rodriguez-Segade S, Castro-Gago M: Cerebrospinal fluid purine metabolite and neuron-specific enolase concentrations after febrile seizures. Brain Dev. 2000 Oct;22(7):427-31. [PubMed ]
|
|
|
Folate deficiency
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00121 |
Folic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Wu AHB. Tietz clinical guide to laboratory tests. 4th ed. St. Louis: Saunders/Elsevier
- 2006.
|
| HMDB00099 |
L-Cystathionine |
Blood; CSF; Urine |
- Stabler SP, Lindenbaum J, Savage DG, Allen RH: Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood. 1993 Jun 15;81(12):3404-13. [PubMed ]
|
|
|
Friedreich's ataxia (OMIM: 229300 )
5 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00763 |
5-Hydroxyindoleacetic acid |
Blood; CSF; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
| HMDB00118 |
Homovanillic acid |
Blood; CSF; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
| HMDB00929 |
L-Tryptophan |
Blood; CSF; Saliva; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
| HMDB00235 |
Thiamine |
Blood; CSF; Urine |
|
| HMDB01490 |
Vanylglycol |
Blood; CSF; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
|
|
Fumarase deficiency (OMIM: 606812 )
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00051 |
Ammonia |
Blood; Cellular Cytoplasm; CSF; Urine |
|
| HMDB00134 |
Fumaric acid |
Blood; CSF; Urine |
|
| HMDB00208 |
Oxoglutaric acid |
Blood; Cellular Cytoplasm; CSF; N/A; Urine |
|
|
|
Functional hypothalamic amenorrhea
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00063 |
Cortisol |
Blood; CSF; Saliva; Urine |
- Brundu B, Loucks TL, Adler LJ, Cameron JL, Berga SL: Increased cortisol in the cerebrospinal fluid of women with functional hypothalamic amenorrhea. J Clin Endocrinol Metab. 2006 Apr;91(4):1561-5. Epub 2006 Feb 7. [PubMed ]
|
|
|
Galactose-1-phosphate uridyltransferase deficiency (OMIM: 230400 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00143 |
D-Galactose |
Blood; Cellular Cytoplasm; CSF; Urine |
- Ning C, Segal S: Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry. Metabolism. 2000 Nov;49(11):1460-6. [PubMed ]
|
|
|
Galactosemia type 1 (OMIM: 230400 )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00143 |
D-Galactose |
Blood; Cellular Cytoplasm; CSF; Urine |
- Chen J, Yager C, Reynolds R, Palmieri M, Segal S: Erythrocyte galactose 1-phosphate quantified by isotope-dilution gas chromatography-mass spectrometry. Clin Chem. 2002;48(4):604-12. [PubMed ]
|
| HMDB00107 |
Galactitol |
Amniotic Fluid; Blood; CSF; Urine |
|
| HMDB00565 |
Galactonic acid |
Blood; Urine |
- Yager CT, Chen J, Reynolds R, Segal S: Galactitol and galactonate in red blood cells of galactosemic patients. Mol Genet Metab. 2003 Nov;80(3):283-9. [PubMed ]
|
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
|
|
|
Gallbladder disease
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01993 |
7a-Hydroxy-cholestene-3-one |
Blood; Urine |
- Hillebrant CG, Axelson M, Bjorkhem I, Wang FH, Nyberg B, Einarsson C: Effects of short-term treatment with pravastatin on the hepatic synthesis of cholesterol and bile acids in gallstone patients. Eur J Clin Invest. 1998 Apr;28(4):324-8. [PubMed ]
|
| HMDB00054 |
Bilirubin |
Bile; Blood; CSF; Urine |
- Lapidus A, Akerlund JE, Einarsson C: Gallbladder bile composition in patients with Crohn 's disease. World J Gastroenterol. 2006 Jan 7;12(1):70-4. [PubMed ]
|
| HMDB00067 |
Cholesterol |
Bile; Blood; CSF; Saliva; Urine |
|
|
|
Gamma-glutamyltransferase deficiency
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB11738 |
Gamma-Glutamylglutamine |
Blood; CSF |
- Hammond JW, Potter M, Sim KG, Wilcken B: Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency. J Inherit Metab Dis. 1999 May;22(3):235-9. [PubMed ]
|
|
|
Gestational diabetes
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01043 |
Arachidonic acid |
Blood; CSF; Urine |
- Min Y, Ghebremeskel K, Lowy C, Thomas B, Crawford MA: Adverse effect of obesity on red cell membrane arachidonic and docosahexaenoic acids in gestational diabetes. Diabetologia. 2004 Jan;47(1):75-81. Epub 2003 Nov 22. [PubMed ]
|
| HMDB00673 |
Linoleic acid |
Blood; CSF; Urine |
- Min Y, Ghebremeskel K, Lowy C, Thomas B, Crawford MA: Adverse effect of obesity on red cell membrane arachidonic and docosahexaenoic acids in gestational diabetes. Diabetologia. 2004 Jan;47(1):75-81. Epub 2003 Nov 22. [PubMed ]
|
| HMDB00207 |
Oleic acid |
Blood; CSF; Urine |
- Min Y, Ghebremeskel K, Lowy C, Thomas B, Crawford MA: Adverse effect of obesity on red cell membrane arachidonic and docosahexaenoic acids in gestational diabetes. Diabetologia. 2004 Jan;47(1):75-81. Epub 2003 Nov 22. [PubMed ]
|
|
|
Glucoglycinuria (OMIM: 138070 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00122 |
D-Glucose |
Blood; Breast Milk; CSF; Saliva; Urine |
- KASER H, COTTIER P, ANTENER I: Glucoglycinuria, a new familial syndrome. J Pediatr. 1962 Sep;61:386-94. [PubMed ]
|
|
|
Glucose transporter type 1 deficiency syndrome (OMIM: 606777 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00060 |
Acetoacetic acid |
Blood; Cellular Cytoplasm; CSF; Urine |
- Klepper J, Diefenbach S, Kohlschutter A, Voit T: Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. Prostaglandins Leukot Essent Fatty Acids. 2004 Mar;70(3):321-7. [PubMed ]
|
|
|
Glucose-galactose malabsorption (OMIM: 606824 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00122 |
D-Glucose |
Blood; Breast Milk; CSF; Saliva; Urine |
- Brodehl J, Oemar BS, Hoyer PF: Renal glucosuria. Pediatr Nephrol. 1987 Jul;1(3):502-8. [PubMed ]
|
|
|
Glutaric acidemia type 2 (OMIM: 231680 )
8 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00339 |
2-Methylbutyrylglycine |
Urine |
|
| HMDB00754 |
3-Hydroxyisovaleric acid |
Blood; CSF; Urine |
|
| HMDB00710 |
4-Hydroxybutyric acid |
Blood; CSF; Urine |
|
| HMDB00448 |
Adipic acid |
Blood; CSF; Urine |
|
| HMDB00606 |
D-2-Hydroxyglutaric acid |
Blood; CSF; Urine |
|
| HMDB00730 |
Isobutyrylglycine |
Urine |
|
| HMDB00678 |
Isovalerylglycine |
Blood; Urine |
|
| HMDB00893 |
Suberic acid |
Blood; CSF; Urine |
|
|
|
Glutaryl-CoA dehydrogenase deficiency (GDHD)
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00429 |
17a-Estradiol |
Blood; Urine |
- Pitt J, Carpenter K, Wilcken B, Boneh A: 3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing. J Inherit Metab Dis. 2002 May;25(2):83-8. [PubMed ]
|
|
|
Glutathione synthetase deficiency (OMIM: 266130 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00267 |
Pyroglutamic acid |
Blood; CSF; Urine |
|
|
|
Glycerol kinase deficiency (OMIM: 307030 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00131 |
Glycerol |
Blood; CSF; Urine |
|
|
|
Glycogen storage disease
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
|
|
|
Glycolic aciduria (OMIM: 259900 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB06372 |
L-Glyceric acid |
Blood; Urine |
- Petrarulo M, Marangella M, Cosseddu D, Linari F: High-performance liquid chromatographic assay for L-glyceric acid in body fluids. Application in primary hyperoxaluria type 2. Clin Chim Acta. 1992 Oct 30;211(3):143-53. [PubMed ]
|
|
|
Growth hormone deficiency (OMIM: 139250 )
5 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00054 |
Bilirubin |
Bile; Blood; CSF; Urine |
- Darzy KH, Murray RD, Gleeson HK, Pezzoli SS, Thorner MO, Shalet SM: The impact of short-term fasting on the dynamics of 24-hour growth hormone (GH) secretion in patients with severe radiation-induced GH deficiency. J Clin Endocrinol Metab. 2006 Mar;91(3):987-94. Epub 2005 Dec 29. [PubMed ]
|
| HMDB00122 |
D-Glucose |
Blood; Breast Milk; CSF; Saliva; Urine |
- Darzy KH, Murray RD, Gleeson HK, Pezzoli SS, Thorner MO, Shalet SM: The impact of short-term fasting on the dynamics of 24-hour growth hormone (GH) secretion in patients with severe radiation-induced GH deficiency. J Clin Endocrinol Metab. 2006 Mar;91(3):987-94. Epub 2005 Dec 29. [PubMed ]
|
| HMDB00569 |
Deoxypyridinoline |
Blood; Urine |
- Rodriguez-Arnao J, James I, Jabbar A, Trainer PJ, Perrett D, Besser GM, Ross RJ: Serum collagen crosslinks as markers of bone turn-over during GH replacement therapy in growth hormone deficient adults. Clin Endocrinol (Oxf). 1998 Apr;48(4):455-62. [PubMed ]
|
| HMDB00118 |
Homovanillic acid |
Blood; CSF; Urine |
- Burman P, Hetta J, Wide L, Mansson JE, Ekman R, Karlsson FA: Growth hormone treatment affects brain neurotransmitters and thyroxine [see comment] Clin Endocrinol (Oxf). 1996 Mar;44(3):319-24. [PubMed ]
|
| HMDB00191 |
L-Aspartic acid |
Blood; CSF; Saliva; Urine |
- Burman P, Hetta J, Wide L, Mansson JE, Ekman R, Karlsson FA: Growth hormone treatment affects brain neurotransmitters and thyroxine [see comment] Clin Endocrinol (Oxf). 1996 Mar;44(3):319-24. [PubMed ]
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|
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Hartnup disease (OMIM: 234500 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00929 |
L-Tryptophan |
Blood; CSF; Saliva; Urine |
- Jonas AJ, Butler IJ: Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester. J Clin Invest. 1989 Jul;84(1):200-4. [PubMed ]
|
|
|
Hawkinsinuria (OMIM: 140350 )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00707 |
4-Hydroxyphenylpyruvic acid |
Blood; Urine |
|
| HMDB00451 |
cis-4-Hydroxycyclohexylacetic acid |
Urine |
|
| HMDB00595 |
Hydrogen carbonate |
Blood; Cellular Cytoplasm; CSF |
|
| HMDB00158 |
L-Tyrosine |
Blood; CSF; Saliva; Urine |
|
|
|
Head injury
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00068 |
Epinephrine |
Blood; CSF; Urine |
- Lambert G, Naredi S, Eden E, Rydenhag B, Friberg P: Monoamine metabolism and sympathetic nervous activation following subarachnoid haemorrhage: influence of gender and hydrocephalus. Brain Res Bull. 2002 May;58(1):77-82. [PubMed ]
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Headache
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00058 |
Cyclic AMP |
Blood; CSF; Urine |
- Kruuse C, Frandsen E, Schifter S, Thomsen LL, Birk S, Olesen J: Plasma levels of cAMP, cGMP and CGRP in sildenafil-induced headache. Cephalalgia. 2004 Jul;24(7):547-53. [PubMed ]
|
| HMDB01314 |
Cyclic GMP |
Blood; CSF |
- Kruuse C, Frandsen E, Schifter S, Thomsen LL, Birk S, Olesen J: Plasma levels of cAMP, cGMP and CGRP in sildenafil-induced headache. Cephalalgia. 2004 Jul;24(7):547-53. [PubMed ]
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Heart failure
12 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00037 |
Aldosterone |
Blood; Saliva; Urine |
- Ferreira A, Bettencourt P, Pestana M, Correia F, Serrao P, Martins L, Cerqueira-Gomes M, Soares-Da-Silva P: Heart failure, aging, and renal synthesis of dopamine. Am J Kidney Dis. 2001 Sep;38(3):502-9. [PubMed ]
|
| HMDB01917 |
Digoxin |
Blood |
- Adams KF Jr, Gheorghiade M, Uretsky BF, Patterson JH, Schwartz TA, Young JB: Clinical benefits of low serum digoxin concentrations in heart failure. J Am Coll Cardiol. 2002 Mar 20;39(6):946-53. [PubMed ]
|
| HMDB00161 |
L-Alanine |
Blood; CSF; Saliva; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
|
| HMDB00517 |
L-Arginine |
Blood; CSF; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
|
| HMDB00148 |
L-Glutamic acid |
Blood; Cellular Cytoplasm; CSF; Saliva; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
|
| HMDB00172 |
L-Isoleucine |
Blood; CSF; Saliva; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
|
| HMDB00687 |
L-Leucine |
Blood; CSF; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
|
| HMDB00696 |
L-Methionine |
Blood; CSF; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
|
| HMDB00187 |
L-Serine |
Blood; CSF; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
|
| HMDB00167 |
L-Threonine |
Blood; CSF; Saliva; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
|
| HMDB01304 |
QH2 |
Blood |
- Bhagavan HN, Chopra RK: Plasma coenzyme Q10 response to oral ingestion of coenzyme Q10 formulations. Mitochondrion. 2007 Jun;7 Suppl:S78-88. Epub 2007 Mar 27. [PubMed ]
|
| HMDB00251 |
Taurine |
Bile; Blood; CSF; Urine |
- Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
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|
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Heat stress
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00216 |
Norepinephrine |
Blood; CSF; Urine |
- McMorris T, Swain J, Smith M, Corbett J, Delves S, Sale C, Harris RC, Potter J: Heat stress, plasma concentrations of adrenaline, noradrenaline, 5-hydroxytryptamine and cortisol, mood state and cognitive performance. Int J Psychophysiol. 2006 Aug;61(2):204-15. Epub 2005 Nov 23. [PubMed ]
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|
|
Hemodialysis
19 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00043 |
Betaine |
Blood; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
| HMDB01282 |
Diadenosine hexaphosphate |
Blood |
- Jankowski J, Jankowski V, Laufer U, van der Giet M, Henning L, Tepel M, Zidek W, Schluter H: Identification and quantification of diadenosine polyphosphate concentrations in human plasma. Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1231-8. Epub 2003 May 8. [PubMed ]
|
| HMDB01192 |
Diadenosine pentaphosphate |
Blood |
- Jankowski J, Jankowski V, Laufer U, van der Giet M, Henning L, Tepel M, Zidek W, Schluter H: Identification and quantification of diadenosine polyphosphate concentrations in human plasma. Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1231-8. Epub 2003 May 8. [PubMed ]
|
| HMDB01211 |
Diadenosine tetraphosphate |
Blood |
- Jankowski J, Jankowski V, Laufer U, van der Giet M, Henning L, Tepel M, Zidek W, Schluter H: Identification and quantification of diadenosine polyphosphate concentrations in human plasma. Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1231-8. Epub 2003 May 8. [PubMed ]
|
| HMDB01155 |
Diadenosine triphosphate |
Blood |
- Jankowski J, Jankowski V, Laufer U, van der Giet M, Henning L, Tepel M, Zidek W, Schluter H: Identification and quantification of diadenosine polyphosphate concentrations in human plasma. Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1231-8. Epub 2003 May 8. [PubMed ]
|
| HMDB00115 |
Glycolic acid |
Blood; CSF; Urine |
- Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ]
|
| HMDB00870 |
Histamine |
Blood; CSF; Urine |
- Gill DS, Fonseca VA, Barradas MA, Balliod R, Moorhead JF, Dandona P: Plasma histamine in patients with chronic renal failure and nephrotic syndrome. J Clin Pathol. 1991 Mar;44(3):243-5. [PubMed ]
|
| HMDB00742 |
Homocysteine |
Blood; CSF; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
| HMDB00725 |
Hydroxyproline |
Blood; Urine |
- Raj DS, Ouwendyk M, Francoeur R, Pierratos A: Plasma amino acid profile on nocturnal hemodialysis. Blood Purif. 2000;18(2):97-102. [PubMed ]
|
| HMDB00162 |
L-Proline |
Blood; CSF; Saliva; Urine |
- Raj DS, Ouwendyk M, Francoeur R, Pierratos A: Plasma amino acid profile on nocturnal hemodialysis. Blood Purif. 2000;18(2):97-102. [PubMed ]
|
| HMDB02329 |
Oxalic acid |
Blood; Urine |
- Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ]
|
| HMDB01858 |
p-Cresol |
Blood; Urine |
- De Smet R, Van Kaer J, Liebich H, Lesaffer G, Verstraete A, Dhondt A, Duym P, Lameire N, Vanholder R: Heparin-induced release of protein-bound solutes during hemodialysis is an in vitro artifact. Clin Chem. 2001 May;47(5):901-9. [PubMed ]
|
| HMDB11635 |
p-Cresol sulfate |
Blood |
- Pham NM, Recht NS, Hostetter TH, Meyer TW: Removal of the protein-bound solutes indican and p-cresol sulfate by peritoneal dialysis. Clin J Am Soc Nephrol. 2008 Jan;3(1):85-90. Epub 2007 Nov 28. [PubMed ]
|
| HMDB01429 |
Phosphate |
Blood; Urine |
- Oikawa O, Higuchi T, Yamazaki T, Yamamoto C, Fukuda N, Matsumoto K: Evaluation of serum fetuin-A relationships with biochemical parameters in patients on hemodialysis. Clin Exp Nephrol. 2007 Dec;11(4):304-8. Epub 2007 Dec 21. [PubMed ]
|
| HMDB02107 |
Phthalic acid |
Blood; Saliva; Urine |
- Pollack GM, Buchanan JF, Slaughter RL, Kohli RK, Shen DD: Circulating concentrations of di(2-ethylhexyl) phthalate and its de-esterified phthalic acid products following plasticizer exposure in patients receiving hemodialysis. Toxicol Appl Pharmacol. 1985 Jun 30;79(2):257-67. [PubMed ]
|
| HMDB00235 |
Thiamine |
Blood; CSF; Urine |
- Hung SC, Hung SH, Tarng DC, Yang WC, Chen TW, Huang TP: Thiamine deficiency and unexplained encephalopathy in hemodialysis and peritoneal dialysis patients. Am J Kidney Dis. 2001 Nov;38(5):941-7. [PubMed ]
|
| HMDB00305 |
Vitamin A |
Blood |
- Cabral PC, Diniz Ada S, de Arruda IK: Vitamin A and zinc status in patients on maintenance haemodialysis. Nephrology (Carlton). 2005 Oct;10(5):459-63. [PubMed ]
|
| HMDB00881 |
Xanthurenic acid |
Blood; Urine |
- Pawlak D, Pawlak K, Malyszko J, Mysliwiec M, Buczko W: Accumulation of toxic products degradation of kynurenine in hemodialyzed patients. Int Urol Nephrol. 2001;33(2):399-404. [PubMed ]
|
| HMDB01303 |
Zinc |
Blood; CSF; Urine |
- McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
|
|
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Hemolytic uremic syndrome (OMIM: 235400 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB04879 |
Trihexosylceramide (d18:1/16:0) |
Blood; Urine |
- Watarai S, Yokota K, Tana, Kishimoto T, Kanadani T, Taketa K, Oguma K: Relationship between susceptibility to hemolytic-uremic syndrome and levels of globotriaosylceramide in human sera. J Clin Microbiol. 2001 Feb;39(2):798-800. [PubMed ]
|
| HMDB04881 |
Trihexosylceramide (d18:1/20:0) |
Blood; Urine |
- Watarai S, Yokota K, Tana, Kishimoto T, Kanadani T, Taketa K, Oguma K: Relationship between susceptibility to hemolytic-uremic syndrome and levels of globotriaosylceramide in human sera. J Clin Microbiol. 2001 Feb;39(2):798-800. [PubMed ]
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Hepatic and biliary malignancies
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00190 |
L-Lactic acid |
Bile; Blood; Cellular Cytoplasm; CSF; Urine |
- Khan SA, Cox IJ, Hamilton G, Thomas HC, Taylor-Robinson SD: In vivo and in vitro nuclear magnetic resonance spectroscopy as a tool for investigating hepatobiliary disease: a review of H and P MRS applications. Liver Int. 2005 Apr;25(2):273-81. [PubMed ]
|
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Hepatic coma
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00232 |
Quinolinic acid |
Blood; CSF; Urine |
- Moroni F, Lombardi G, Carla V, Lal S, Etienne P, Nair NP: Increase in the content of quinolinic acid in cerebrospinal fluid and frontal cortex of patients with hepatic failure. J Neurochem. 1986 Dec;47(6):1667-71. [PubMed ]
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Hepatic encephalopathy
5 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03671 |
2-Heptanone |
CSF |
- Goldberg EM, Blendis LM, Sandler S: A gas chromatographic--mass spectrometric study of profiles of volatile metabolites in hepatic encephalopathy. J Chromatogr. 1981 Dec 11;226(2):291-9. [PubMed ]
|
| HMDB01659 |
Acetone |
Blood; CSF; Urine |
- Goldberg EM, Blendis LM, Sandler S: A gas chromatographic--mass spectrometric study of profiles of volatile metabolites in hepatic encephalopathy. J Chromatogr. 1981 Dec 11;226(2):291-9. [PubMed ]
|
| HMDB05960 |
D-Pipecolic acid |
Blood |
- Fujita T, Amuro Y, Hada T, Higashino K: Plasma levels of pipecolic acid, both L- and D-enantiomers, in patients with chronic liver diseases, especially hepatic encephalopathy. Clin Chim Acta. 1999 Sep;287(1-2):99-109. [PubMed ]
|
| HMDB00112 |
Gamma-Aminobutyric acid |
Blood; CSF; Saliva; Urine |
- Campollo O, MacGillivray BB, McIntyre N: [Association of plasma ammonia and GABA levels and the degree of hepatic encephalopathy] Rev Invest Clin. 1992 Oct-Dec;44(4):483-90. [PubMed ]
|
| HMDB06478 |
Iso-Valeraldehyde |
Blood; CSF |
|
|
|
Hepatitis
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB02061 |
Hyaluronic acid |
Blood; CSF |
- Ukarapol N, Wongsawasdi L, Ong-Chai S, Riddhiputra P, Kongtawelert P: Hyaluronic acid: additional biochemical marker in the diagnosis of biliary atresia. Pediatr Int. 2007 Oct;49(5):608-11. [PubMed ]
|
| HMDB02639 |
Sulfolithocholylglycine |
Blood; Urine |
- Kobayashi N, Katsumata H, Uto Y, Goto J, Niwa T, Kobayashi K, Mizuuchi Y: A monoclonal antibody-based enzyme-linked immunosorbent assay of glycolithocholic acid sulfate in human urine for liver function test. Steroids. 2002 Sep;67(10):827-33. [PubMed ]
|
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Hepatobiliary diseases
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00138 |
Glycocholic acid |
Blood; Urine |
- Rifai K, Ockenga J, Manns MP, Bischoff SC: Repeated administration of a vitamin preparation containing glycocholic acid in patients with hepatobiliary disease. Aliment Pharmacol Ther. 2006 May 1;23(9):1337-45. [PubMed ]
|
|
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Hepatocellular carcinoma (OMIM: 114550 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03331 |
1-Methyladenosine |
Blood; Urine |
- Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ]
|
| HMDB01452 |
Thromboxane A2 |
Blood; Urine |
- Matsumata T, Yamamoto K, Shirabe K, Shimada M, Sugimachi K, Takesue F, Muto Y, Ikeda T: Urinary excretion of prostaglandins and renal function after hepatic resection. Hepatogastroenterology. 1997 May-Jun;44(15):774-8. [PubMed ]
|
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Hereditary coproporphyria (OMIM: 121300 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00570 |
Coproporphyrin III |
Blood; Urine |
- Zuijderhoudt FM, Koehorst SG, Kluitenberg WE, Dorresteijn-de Bok J: On accuracy and precision of a HPLC method for measurement of urine porphyrin concentrations. Clin Chem Lab Med. 2000 Mar;38(3):227-30. [PubMed ]
|
| HMDB00737 |
Heptacarboxylporphyrin I |
Urine |
- Zuijderhoudt FM, Koehorst SG, Kluitenberg WE, Dorresteijn-de Bok J: On accuracy and precision of a HPLC method for measurement of urine porphyrin concentrations. Clin Chem Lab Med. 2000 Mar;38(3):227-30. [PubMed ]
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|
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Hereditary spastic paraplegia (OMIM: 182601 )
5 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00763 |
5-Hydroxyindoleacetic acid |
Blood; CSF; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
| HMDB00118 |
Homovanillic acid |
Blood; CSF; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
| HMDB00929 |
L-Tryptophan |
Blood; CSF; Saliva; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
| HMDB00235 |
Thiamine |
Blood; CSF; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
| HMDB01490 |
Vanylglycol |
Blood; CSF; Urine |
- Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
|
|
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Herpes zoster
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03040 |
Arabinosylhypoxanthine |
Blood |
- McCann WP, Hall LM, Siler W, Barton N, Whitley RJ: High-pressure liquid chromatographic methods for determining arabinosyladenine-5'-monophosphate, arabinosyladenine, and arabinosylhypoxanthine in plasma and urine. Antimicrob Agents Chemother. 1985 Aug;28(2):265-73. [PubMed ]
|
|
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Histidinemia (OMIM: 235800 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00177 |
L-Histidine |
Blood; CSF; Saliva; Urine |
- 7729054
- http://www.metagene.de/program/d.prg?mp=HISTIDINEMIA
|
| HMDB02089 |
N-Ribosylhistidine |
Blood; Urine |
- Imamura I, Watanabe T, Sakamoto Y, Wakamiya T, Shiba T, Hase Y, Tsuruhara T, Wada H: N tau-Ribosylhistidine, a novel histidine derivative in urine of histidinemic patients. Isolation, structure, and tissue level. J Biol Chem. 1985 Sep 5;260(19):10528-30. [PubMed ]
|
|
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Homocystinuria (OMIM: 236200 )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00575 |
DL-Homocystine |
Blood; Urine |
|
| HMDB02034 |
Homolanthionine |
|
- Perry TL, Hansen S, MacDougall L: Homolanthionine excretion in homocystinuria. Science. 1966 Jun 24;152(730):1750-2. [PubMed ]
|
| HMDB00676 |
L-Homocystine |
CSF; Urine |
- CARSON NA, DENT CE, FIELD CM, GAULL GE: HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES. J Pediatr. 1965 Mar;66:565-83. [PubMed ]
|
| HMDB00696 |
L-Methionine |
Blood; CSF; Urine |
|
|
|
Homozygous sickle cell disease
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00607 |
Cyanocobalamin |
Blood; CSF; Urine |
- van der Dijs FP, Schnog JJ, Brouwer DA, Velvis HJ, van den Berg GA, Bakker AJ, Duits AJ, Muskiet FD, Muskiet FA: Elevated homocysteine levels indicate suboptimal folate status in pediatric sickle cell patients. Am J Hematol. 1998 Nov;59(3):192-8. [PubMed ]
|
| HMDB00239 |
Pyridoxine |
Blood |
- van der Dijs FP, Schnog JJ, Brouwer DA, Velvis HJ, van den Berg GA, Bakker AJ, Duits AJ, Muskiet FD, Muskiet FA: Elevated homocysteine levels indicate suboptimal folate status in pediatric sickle cell patients. Am J Hematol. 1998 Nov;59(3):192-8. [PubMed ]
|
|
|
Huntington's disease (OMIM: 143100 )
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03869 |
Epsilon-(gamma-Glutamyl)-lysine |
Blood; CSF |
- Jeitner TM, Bogdanov MB, Matson WR, Daikhin Y, Yudkoff M, Folk JE, Steinman L, Browne SE, Beal MF, Blass JP, Cooper AJ: N(epsilon)-(gamma-L-glutamyl)-L-lysine (GGEL) is increased in cerebrospinal fluid of patients with Huntington's disease. J Neurochem. 2001 Dec;79(5):1109-12. [PubMed ]
|
| HMDB04207 |
L-a-glutamyl-L-Lysine |
CSF |
- Jeitner TM, Bogdanov MB, Matson WR, Daikhin Y, Yudkoff M, Folk JE, Steinman L, Browne SE, Beal MF, Blass JP, Cooper AJ: N(epsilon)-(gamma-L-glutamyl)-L-lysine (GGEL) is increased in cerebrospinal fluid of patients with Huntington's disease. J Neurochem. 2001 Dec;79(5):1109-12. [PubMed ]
|
|
|
Hydrocephalus
5 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00157 |
Hypoxanthine |
Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine |
- Castro-Gago M, Rodriguez IN, Rodriguez-Nunez A, Guitian JP, Rocamonde SL, Rodriguez-Segade S: Therapeutic criteria in hydrocephalic children. Childs Nerv Syst. 1989 Dec;5(6):361-3. [PubMed ]
|
| HMDB00684 |
L-Kynurenine |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
| HMDB00845 |
Neopterin |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
| HMDB00232 |
Quinolinic acid |
Blood; CSF; Urine |
- Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
|
| HMDB00292 |
Xanthine |
Blood; CSF; Urine |
- Castro-Gago M, Rodriguez IN, Rodriguez-Nunez A, Guitian JP, Rocamonde SL, Rodriguez-Segade S: Therapeutic criteria in hydrocephalic children. Childs Nerv Syst. 1989 Dec;5(6):361-3. [PubMed ]
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|
|
Hydrogen sulfide poisoning
2 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03276 |
Hydrogen sulfide |
Blood |
- Kage S, Ikeda H, Ikeda N, Tsujita A, Kudo K: Fatal hydrogen sulfide poisoning at a dye works. Leg Med (Tokyo). 2004 Jul;6(3):182-6. [PubMed ]
|
| HMDB00257 |
Thiosulfate |
Bile; Blood; Urine |
- Kage S, Ikeda H, Ikeda N, Tsujita A, Kudo K: Fatal hydrogen sulfide poisoning at a dye works. Leg Med (Tokyo). 2004 Jul;6(3):182-6. [PubMed ]
|
|
|
Hyperargininemia (OMIM: 207800 )
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB03148 |
Argininic acid |
Blood |
- Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A: Guanidino compounds in hyperargininemia. Tohoku J Exp Med. 1987 Nov;153(3):197-205. [PubMed ]
|
| HMDB00670 |
Homo-L-arginine |
Blood; CSF; Urine |
- Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A: Guanidino compounds in hyperargininemia. Tohoku J Exp Med. 1987 Nov;153(3):197-205. [PubMed ]
|
| HMDB00517 |
L-Arginine |
Blood; CSF; Urine |
- Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A: Guanidino compounds in hyperargininemia. Tohoku J Exp Med. 1987 Nov;153(3):197-205. [PubMed ]
|
| HMDB04620 |
N-a-Acetyl-L-arginine |
Blood; CSF; Urine |
- Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A: Guanidino compounds in hyperargininemia. Tohoku J Exp Med. 1987 Nov;153(3):197-205. [PubMed ]
|
|
|
Hypercholesterolemia
4 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB01419 |
24-Hydroxycholesterol |
Blood; CSF |
- Thelen KM, Laaksonen R, Paiva H, Lehtimaki T, Lutjohann D: High-dose statin treatment does not alter plasma marker for brain cholesterol metabolism in patients with moderately elevated plasma cholesterol levels. J Clin Pharmacol. 2006 Jul;46(7):812-6. [PubMed ]
|
| HMDB00885 |
CE(16:0) |
Blood |
- Kim DH, Lee KJ, Heo GS: Analysis of cholesterol and cholesteryl esters in human serum using capillary supercritical fluid chromatography. J Chromatogr B Biomed Appl. 1994 Apr 22;655(1):1-8. [PubMed ]
|
| HMDB00067 |
Cholesterol |
Bile; Blood; CSF; Saliva; Urine |
- [No authors listed]Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. The Expert Panel. Arch Intern Med. 1988 Jan;148(1):36-69. [PubMed ]
|
| HMDB00653 |
Cholesterol sulfate |
Blood |
- Tamasawa N, Tamasawa A, Takebe K: Higher levels of plasma cholesterol sulfate in patients with liver cirrhosis and hypercholesterolemia. Lipids. 1993 Sep;28(9):833-6. [PubMed ]
|
|
|
Hyperlipidemia (OMIM: 238600 )
1 metabolite
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00122 |
D-Glucose |
Blood; Breast Milk; CSF; Saliva; Urine |
- Sinha S, Misra A, Kumar V, Jagannathan NR, Bal CS, Pandey RM, Singhania R, Deepak: Proton magnetic resonance spectroscopy and single photon emission computed tomography study of the brain in asymptomatic young hyperlipidaemic Asian Indians in North India show early abnormalities. Clin Endocrinol (Oxf). 2004 Aug;61(2):182-9. [PubMed ]
|
|
|
Hyperoxalemia
3 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB00044 |
Ascorbic acid |
Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine |
- Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ]
|
| HMDB00094 |
Citric acid |
Blood; CSF; Urine |
- Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ]
|
| HMDB00562 |
Creatinine |
Amniotic Fluid; Blood; CSF; Saliva; Urine |
- Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ]
|
|
|
Hypertension (OMIM: 145500 )
16 metabolites
|
| HMDB ID |
Name |
Biofluid Location(s) |
References |
| HMDB05199 |
(R)-Salsolinol |
Blood; CSF |
- Andrew R, Best SA, Watson DG, Midgley JM, Reid JL, Squire IB: Analysis of biogenic amines in plasma of hypertensive patients and a control group. Neurochem Res. 1993 Nov;18(11):1179-82. [PubMed ]
|
| HMDB05998 |
20-Hydroxyeicosatetraenoic acid |
Blood; CSF; Urine |
- Minuz P, Jiang H, Fava C, Turolo L, Tacconelli S, Ricci M, Patrignani P, Morganti A, Lechi A, McGiff JC: Altered release of cytochrome p450 metabolites of arachidonic acid in renovascular disease. Hypertension. 2008 May;51(5):1379-85. Epub 2008 Mar 31. [PubMed ]
|
| HMDB10345 |
Aldosterone 18-glucuronide |
Urine |
- Abdelhamid S, Blomer R, Hommel G, Haack D, Lewicka S, Fiegel P, Krumme B: Urinary tetrahydroaldosterone as a screening method for primary aldosteronism: a comparative study. Am J Hypertens. 2003 Jul;16(7):522-30. [PubMed ]
|
| HMDB01388 |
Alpha-Linolenic acid |
Blood; Urine |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB01035 |
Angiotensin II |
Blood; Urine |
- Sim MK, Qui XS: Angiotensins in plasma of hypertensive rats and human. Regul Pept. 2003 Mar 28;111(1-3):179-82. [PubMed ]
|
| HMDB01036 |
Angiotensin III |
Blood |
- Sim MK, Qui XS: Angiotensins in plasma of hypertensive rats and human. Regul Pept. 2003 Mar 28;111(1-3):179-82. [PubMed ]
|
| HMDB01043 |
Arachidonic acid |
Blood; CSF; Urine |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB00076 |
Dihydrouracil |
Blood; CSF; Urine |
- Hayashi K, Kidouchi K, Sumi S, Mizokami M, Orito E, Kumada K, Ueda R, Wada Y: Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria. Clin Cancer Res. 1996 Dec;2(12):1937-41. [PubMed ]
|
| HMDB02183 |
Docosahexaenoic acid |
Blood; CSF; Urine |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB01999 |
Eicosapentaenoic acid |
Blood |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB00673 |
Linoleic acid |
Blood; CSF; Urine |
- Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
|
| HMDB04989 |
m-Tyramine |
Blood; Urine |
- Andrew R, Best SA, Watson DG, Midgley JM, Reid JL, Squire IB: Analysis of biogenic amines in plasma of hypertensive patients and a control group. Neurochem Res. 1993 Nov;18(11):1179-82. [PubMed ]
|
| HMDB04825 |
p-Octopamine |
Blood; Urine |
- Andrew R, Best SA, Watson DG, Midgley JM, Reid JL, Squire IB: Analysis of biogenic amines in plasma of hypertensive patients and a control group. Neurochem Res. 1993 Nov;18(11):1179-82. [PubMed ]
|
| HMDB04826 |
p-Synephrine |
Blood; Urine |
- Andrew R, Best SA, Watson DG, Midgley JM, Reid JL, Squire IB: Analysis of biogenic amines in plas
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