Browsing Diseases
Displaying diseases 581 - 590 of 660 in total
Salla disease (604369 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| N-Acetylneuraminic acid (HMDB0000230) | Urine | 64.4 (31.7-225.4) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Neuraminic acid (HMDB0000830) | Urine | 78.269-275.000 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Sarcoma
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 5-Aminoimidazole-4-carboxamide (HMDB0003192) | Blood | 5.55 (0.79 - 39.67) uM | Abnormal | Adult (>18 years old) | Both | details |
Sarcosinemia (268900 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Sarcosine (HMDB0000271) | Blood | 300.0 (80.0-603.0) uM | Abnormal | Children (1-13 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | 354.6 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Glycine (HMDB0000123) | Blood | 254-310 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Serine (HMDB0000187) | Blood | 222.4 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Serine (HMDB0000187) | Blood | 116-145 uM | Abnormal | Adult (>18 years old) | Male | details |
| Sarcosine (HMDB0000271) | Blood | 654.1 uM | Abnormal | Infant (0-1 year old) | Female | details |
| Sarcosine (HMDB0000271) | Blood | 200-300 uM | Abnormal | Children (1-13 years old) | Female | details |
| Sarcosine (HMDB0000271) | Blood | 238-379 uM | Abnormal | Adult (>18 years old) | Male | details |
| Sarcosine (HMDB0000271) | Cerebrospinal Fluid (CSF) | 5-17 uM | Abnormal | Children (1-13 years old) | Male | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 6-7 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 28-32 uM | Abnormal | Adult (>18 years old) | Male | details |
| Sarcosine (HMDB0000271) | Cerebrospinal Fluid (CSF) | 7-12 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glycine (HMDB0000123) | Urine | 972.85 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Glycine (HMDB0000123) | Urine | 198-419 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| L-Serine (HMDB0000187) | Urine | 147.06 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| L-Serine (HMDB0000187) | Urine | 38-77 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
| Sarcosine (HMDB0000271) | Urine | 361.333 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Sarcosine (HMDB0000271) | Urine | 2703.95 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
| Sarcosine (HMDB0000271) | Urine | 631-1214 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |
SC4MOL deficiency (616834 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Cholesterol (HMDB0000067) | Blood | 2198.351-2405.254 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
Schistosomiasis
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Tuftsin (HMDB0005770) | Blood | 0.66 +/- 0.05 uM | Abnormal | Children (1-13 years old) | Both | details |
Schizophrenia (181500 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Homovanillic acid (HMDB0000118) | Blood | 0.062 +/- 0.022 uM | Abnormal | Adult (>18 years old) | Male | details |
| Homovanillic acid (HMDB0000118) | Blood | 0.071 +/- 0.022 uM | Abnormal | Adult (>18 years old) | Female | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Blood | 0.0475 +/- 0.0130 uM | Abnormal | Adult (>18 years old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Blood | 0.0449 +/- 0.0140 uM | Abnormal | Adult (>18 years old) | Female | details |
| Vanylglycol (HMDB0001490) | Blood | 0.0237 +/- 0.011 uM | Abnormal | Adult (>18 years old) | Male | details |
| Vanylglycol (HMDB0001490) | Blood | 0.0232 +/- 0.0063 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Blood | 91.2 +/- 30.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Tyrosine (HMDB0000158) | Blood | 73.0 +/- 20.0 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Tryptophan (HMDB0000929) | Blood | 83.3 +/- 26.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Tryptophan (HMDB0000929) | Blood | 80.2 +/- 22.0 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Glutamic acid (HMDB0000148) | Blood | 32.7 +/- 18.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Glutamic acid (HMDB0000148) | Blood | 34.7 +/- 26.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Glutamine (HMDB0000641) | Blood | 650.0 +/- 98.0 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Glutamine (HMDB0000641) | Blood | 673.0 +/- 96.0 uM | Abnormal | Adult (>18 years old) | Female | details |
| D-Glutamic acid (HMDB0003339) | Blood | 156.0 +/- 90.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 10.55 +/- 1.93 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Serine (HMDB0003406) | Blood | 1.86 +/- 0.53 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Serine (HMDB0000187) | Blood | 197.9 +/- 46.4 uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | 17.6 +/- 3.84 uM | Abnormal | Adult (>18 years old) | Both | details |
| Arachidonic acid (HMDB0001043) | Blood | 38.5 +/- 2.18 uM | Abnormal | Adult (>18 years old) | Both | details |
| Linoleic acid (HMDB0000673) | Blood | 159 +/- 12.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Serine (HMDB0003406) | Blood | 1.57 +/- 0.07 uM | Abnormal | Adult (>18 years old) | Both | details |
| Betaine (HMDB0000043) | Blood | 43.00 +/- 12.34 uM | Abnormal | Adult (>18 years old) | Both | details |
| Creatine (HMDB0000064) | Blood | 43.2 +/- 18.10 uM | Abnormal | Adult (>18 years old) | Both | details |
| gamma-Glutamylcysteine (HMDB0001049) | Blood | 2.07 +/- 0.12 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutathione (HMDB0000125) | Blood | 516.50 +/- 238.40 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glutathione (HMDB0000125) | Blood | 3.03 +/- 0.149 uM | Abnormal | Adult (>18 years old) | Both | details |
| Oxidized glutathione (HMDB0003337) | Blood | 27.94 +/- 23.19 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Blood | 101 +/- 4.48 uM | Abnormal | Adult (>18 years old) | Both | details |
| D-Lactic acid (HMDB0001311) | Blood | 13.1 +/- 1.42 uM | Abnormal | Adult (>18 years old) | Both | details |
| Gluconic acid (HMDB0000625) | Blood | 3.732 +/- 0.687 uM | Abnormal | Adult (>18 years old) | Both | details |
| Taurine (HMDB0000251) | Blood | 67 +/- 20 uM | Abnormal | Adult (>18 years old) | Male | details |
| Taurine (HMDB0000251) | Blood | 68 +/- 14 uM | Abnormal | Adult (>18 years old) | Female | details |
| Serotonin (HMDB0000259) | Blood | 0.61 +/- 0.096 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Kynurenine (HMDB0000684) | Blood | 2.35 +/- 0.162 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Glutamic acid (HMDB0000148) | Blood | 71.3 +/- 12.3 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Glutamic acid (HMDB0000148) | Blood | 77.93 +/- 39.86 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Alanine (HMDB0000161) | Blood | 392 +/- 111 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Histidine (HMDB0000177) | Blood | 84 +/- 11 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Histidine (HMDB0000177) | Blood | 84 +/- 14 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Isoleucine (HMDB0000172) | Blood | 77 +/- 14 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Isoleucine (HMDB0000172) | Blood | 64 +/- 15 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Leucine (HMDB0000687) | Blood | 171 +/- 30 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Leucine (HMDB0000687) | Blood | 141 +/- 26 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Lysine (HMDB0000182) | Blood | 206 +/- 29 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Lysine (HMDB0000182) | Blood | 186 +/- 28 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Methionine (HMDB0000696) | Blood | 27 +/- 7 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Methionine (HMDB0000696) | Blood | 26 +/- 7 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Valine (HMDB0000883) | Blood | 273 +/- 45 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Valine (HMDB0000883) | Blood | 232 +/- 44 uM | Abnormal | Adult (>18 years old) | Female | details |
| L-Phenylalanine (HMDB0000159) | Blood | 64 +/- 8 uM | Abnormal | Adult (>18 years old) | Male | details |
| L-Phenylalanine (HMDB0000159) | Blood | 57 +/- 8 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
| L-Tyrosine (HMDB0000158) | Blood | 57.2 +/- 3.33 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Threonine (HMDB0000167) | Blood | 111 +/- 10.3 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Blood | 63.51 +/- 2.04 uM | Abnormal | Adult (>18 years old) | Both | details |
| Stearic acid (HMDB0000827) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxybutyric acid (HMDB0000008) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Palmitic acid (HMDB0000220) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Malic acid (HMDB0000156) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Serine (HMDB0000187) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystine (HMDB0000192) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pyroglutamic acid (HMDB0000267) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-alpha-Aminobutyric acid (HMDB0000452) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Aspartic acid (HMDB0006483) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pyruvic acid (HMDB0000243) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Stearic acid (HMDB0000827) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Linoleic acid (HMDB0000673) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oleic acid (HMDB0000207) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Palmitic acid (HMDB0000220) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Cholesterol (HMDB0000067) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| gamma-Tocopherol (HMDB0001492) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Aspartic acid (HMDB0000191) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Erythrose (HMDB0002649) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glyceric acid 1,3-biphosphate (HMDB0001270) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycerol (HMDB0000131) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| myo-Inositol (HMDB0000211) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Cortisol (HMDB0000063) | Blood | 0.326 +/- 0.090 uM | Abnormal | Adult (>18 years old) | Both | details |
| 13,14-Dihydro-15-keto-PGE2 (HMDB0002776) | Blood | 0.000224 +/- 0.000057 uM | Abnormal | Adult (>18 years old) | Both | details |
| Malondialdehyde (HMDB0006112) | Blood | 4.76 +/- 0.79 uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Blood | 0.021 +/- 0.007 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetylserotonin (HMDB0001238) | Blood | 0.011 uM | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| PC(16:0/18:2(9Z,12Z)) (HMDB0007973) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(16:0/0:0) (HMDB0010382) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:0/0:0) (HMDB0010384) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:1(11Z)/0:0) (HMDB0010385) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:2(9Z,12Z)/0:0) (HMDB0010386) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Blood | Not Quantified | Disease | Adult (>18 years old) | Both | details |
| L-Alanine (HMDB0000161) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Acetoacetic acid (HMDB0000060) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 3-Indolebutyric acid (HMDB0002096) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pelargonic acid (HMDB0000847) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Perillic acid (HMDB0004586) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Benzoic acid (HMDB0001870) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Imidazolelactic acid (HMDB0002320) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Cyclohexylamine (HMDB0031404) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Arachidic acid (HMDB0002212) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Heptadecanoic acid (HMDB0002259) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oleic acid (HMDB0000207) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pentadecanoic acid (HMDB0000826) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Cholesterol (HMDB0000067) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 20alpha-Dihydroprogesterone (HMDB0003069) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| 3b,17b-Dihydroxyetiocholane (HMDB0000369) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| 5a-Pregnane-3,20-dione (HMDB0003759) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Alloepipregnanolone (HMDB0001455) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Alloepipregnanolone (HMDB0001455) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Androstenedione (HMDB0000053) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Androsterone (HMDB0000031) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Cortisol (HMDB0000063) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Dehydroepiandrosterone sulfate (HMDB0001032) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| 5alpha-Androstane-3beta,17beta-diol (HMDB0000493) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Epiandrosterone (HMDB0000365) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Epietiocholanolone (HMDB0000546) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Epietiocholanolone (HMDB0000546) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Epipregnanolone (HMDB0001471) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Etiocholanolone (HMDB0000490) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Etiocholanolone (HMDB0000490) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Pregnenolone (HMDB0000253) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Pregnenolone (HMDB0000253) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Pregnenolone sulfate (HMDB0000774) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Pregnenolone sulfate (HMDB0000774) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Progesterone (HMDB0001830) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Male | details |
| Progesterone (HMDB0001830) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| Testosterone (HMDB0000234) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Female | details |
| PC(O-16:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z)) (HMDB0013409) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Arginine (HMDB0000517) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Glutamine (HMDB0000641) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Histidine (HMDB0000177) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Ornithine (HMDB0000214) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Phosphatidylethanolamine (HMDB0060501) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(16:0/0:0) (HMDB0010382) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| LysoPC(18:0/0:0) (HMDB0010384) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 11Z-Eicosenoic acid (HMDB0002231) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Myristic acid (HMDB0000806) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Glutamic acid (HMDB0000148) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Aspartic acid (HMDB0000191) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Glutamine (HMDB0000641) | Blood | 572 +/- 116 uM | Abnormal | Adult (>18 years old) | Male | details |
| Glyceric acid (HMDB0000139) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Allantoin (HMDB0000462) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Blood | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.21 +/- 0.035 uM | Abnormal | Adult (>18 years old) | Female | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.19 +/- 0.030 uM | Abnormal | Adult (>18 years old) | Female | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.05 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Female | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.04 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Female | details |
| p-Hydroxyphenylacetic acid (HMDB0000020) | Cerebrospinal Fluid (CSF) | 0.31 +/- 0.0.03 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 5-Hydroxytryptophol (HMDB0001855) | Cerebrospinal Fluid (CSF) | 0.11 +/- 0.013 uM | Abnormal | Adult (>18 years old) | Female | details |
| N2-gamma-Glutamylglutamine (HMDB0011738) | Cerebrospinal Fluid (CSF) | 2.07 +/- 0.52 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetyl-L-aspartic acid (HMDB0000812) | Cerebrospinal Fluid (CSF) | 0.80 +/- 0.62 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Alanine (HMDB0000161) | Cerebrospinal Fluid (CSF) | 4.04 +/- 0.57 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Asparagine (HMDB0000168) | Cerebrospinal Fluid (CSF) | 6.01 +/- 0.65 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Aspartic acid (HMDB0000191) | Cerebrospinal Fluid (CSF) | 0.24 +/- 0.10 uM | Abnormal | Adult (>18 years old) | Both | details |
| Citrulline (HMDB0000904) | Cerebrospinal Fluid (CSF) | 5.38 +/- 0.94 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Glutamic acid (HMDB0000148) | Cerebrospinal Fluid (CSF) | 0.32 +/- 0.09 uM | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 4.5 +/- 0.75 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Isoleucine (HMDB0000172) | Cerebrospinal Fluid (CSF) | 6.0 +/- 0.65 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Methionine (HMDB0000696) | Cerebrospinal Fluid (CSF) | 2.7 +/- 0.67 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Phenylalanine (HMDB0000159) | Cerebrospinal Fluid (CSF) | 4.6 +/- 1.0 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 7.5 +/- 0.87 uM | Abnormal | Adult (>18 years old) | Both | details |
| Taurine (HMDB0000251) | Cerebrospinal Fluid (CSF) | 5.0 +/- 0.86 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Threonine (HMDB0000167) | Cerebrospinal Fluid (CSF) | 9.68 +/- 2.22 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Cerebrospinal Fluid (CSF) | 2.67 +/- 0.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tyrosine (HMDB0000158) | Cerebrospinal Fluid (CSF) | 7.8 +/- 1.38 uM | Abnormal | Adult (>18 years old) | Both | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.019 +/- 0.0094 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.038 +/- 0.016 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.00137 (0.000604-0.00225) uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Arginine (HMDB0000517) | Cerebrospinal Fluid (CSF) | 0.00000964 +/- 0.000001244 uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 42.5 +/- 7.6 uM | Abnormal | Adult (>18 years old) | Both | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 50.3 +/- 7.4 uM | Abnormal | Adult (>18 years old) | Female | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 110 +/- 68.6 uM | Abnormal | Adult (>18 years old) | Male | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 167 +/- 74.5 uM | Abnormal | Adult (>18 years old) | Female | details |
| 1-Methylhistamine (HMDB0000898) | Cerebrospinal Fluid (CSF) | 2.90 +/- 0.27 uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 1.00 +/- 0.03 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.056 +/- 0.022 uM | Abnormal | Adult (>18 years old) | Both | details |
| Kynurenic acid (HMDB0000715) | Cerebrospinal Fluid (CSF) | 0.00133 +/- 0.00009 uM | Abnormal | Adult (>18 years old) | Male | details |
| 1-Methylhistamine (HMDB0000898) | Cerebrospinal Fluid (CSF) | 0.00290 +/- 0.00027 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-gamma-Glutamylglutamine (HMDB0029147) | Cerebrospinal Fluid (CSF) | 2.07 +/- 0.52 uM | Abnormal | Adult (>18 years old) | Both | details |
| N-Acetylaspartylglutamic acid (HMDB0001067) | Urine | 2.1 +/- 0.9 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| 2-Hydroxybutyric acid (HMDB0000008) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 3-Hydroxybutyric acid (HMDB0000011) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| 4-Pentenoic acid (HMDB0031602) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Cystine (HMDB0000192) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pyroglutamic acid (HMDB0000267) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Aminoadipic acid (HMDB0000510) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Guanidoacetic acid (HMDB0000128) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-alpha-Aminobutyric acid (HMDB0000452) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Isoleucine (HMDB0000172) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Valine (HMDB0000883) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pipecolic acid (HMDB0000070) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| cis-Aconitic acid (HMDB0000072) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Lactic acid (HMDB0000190) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycolic acid (HMDB0000115) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pyrocatechol (HMDB0000957) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Pregnanediol (HMDB0004025) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Creatine (HMDB0000064) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Creatinine (HMDB0000562) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Glycine (HMDB0000123) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Valine (HMDB0000883) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Oxoglutaric acid (HMDB0000208) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Citric acid (HMDB0000094) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Taurine (HMDB0000251) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Uric acid (HMDB0000289) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Hippuric acid (HMDB0000714) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Trimethylamine N-oxide (HMDB0000925) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| D-Glucose (HMDB0000122) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Epinephrine (HMDB0000068) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Norepinephrine (HMDB0000216) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Dopamine (HMDB0000073) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| Suberic acid (HMDB0000893) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| L-Glutamic acid (HMDB0000148) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
| alpha-D-Glucose (HMDB0003345) | Urine | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |
Segawa Syndrome (128230 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Biopterin (HMDB0000468) | Cerebrospinal Fluid (CSF) | 20.6 (19.2 - 22.0) uM | Abnormal | Adult (>18 years old) | Not Specified | details |
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) (612780 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Magnesium (HMDB0000547) | Blood | 540-620 uM | Abnormal | Adult (>18 years old) | Female | details |
| Potassium (HMDB0000586) | Blood | 2900-3150 uM | Abnormal | Adult (>18 years old) | Female | details |
| Hydrogen carbonate (HMDB0000595) | Blood | 28000-33000 uM | Abnormal | Adult (>18 years old) | Female | details |
| Potassium (HMDB0000586) | Urine | 16180-38180 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
Sengers syndrome (212350 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 3500-14000 uM | Abnormal | Children (1-13 years old) | Both | details |
| 3-Methylglutaconic acid (HMDB0000522) | Urine | 20-488 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Sepiapterin reductase deficiency (182125 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Sepiapterin (HMDB0000238) | Cerebrospinal Fluid (CSF) | 0.0083 (0.0056-0.011) uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.0585 (0.055-0.062) uM | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Dopa (HMDB0000181) | Cerebrospinal Fluid (CSF) | <0.001 uM | Abnormal | Children (1-13 years old) | Male | details |
| Sepiapterin (HMDB0000238) | Cerebrospinal Fluid (CSF) | 0.01375 (0.0075-0.02) uM | Abnormal | Children (1-13 years old) | Male | details |
| Serotonin (HMDB0000259) | Cerebrospinal Fluid (CSF) | <0.002 uM | Abnormal | Children (1-13 years old) | Male | details |
| Biopterin (HMDB0000468) | Cerebrospinal Fluid (CSF) | 0.0376 (0.0281-0.0471) uM | Abnormal | Children (1-13 years old) | Male | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0045 (0.004-0.005) uM | Abnormal | Children (1-13 years old) | Male | details |
| Neopterin (HMDB0000845) | Cerebrospinal Fluid (CSF) | 0.01175 (0.008-0.0155) uM | Abnormal | Children (1-13 years old) | Male | details |
| 3-Methoxytyrosine (HMDB0001434) | Cerebrospinal Fluid (CSF) | 0.0105 (0.008-0.013) uM | Abnormal | Children (1-13 years old) | Male | details |
| Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.013 (0.012-0.014) uM | Abnormal | Children (1-13 years old) | Male | details |