Record Information |
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Version | 4.0 |
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Status | Detected and Quantified |
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Creation Date | 2005-11-16 15:48:42 UTC |
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Update Date | 2020-11-09 23:12:49 UTC |
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HMDB ID | HMDB0000214 |
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Secondary Accession Numbers | - HMDB0000818
- HMDB0004984
- HMDB00214
- HMDB00818
- HMDB04984
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Metabolite Identification |
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Common Name | Ornithine |
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Description | L-ornithine, also known as (S)-2,5-diaminopentanoic acid or ornithine is a member of the class of compounds known as L-alpha-amino acids. L-alpha-amino acids are alpha amino acids which have the L-configuration of the alpha-carbon atom. L-ornithine is soluble (in water) and a moderately acidic compound. It has been claimed that ornithine improves athletic performance, has anabolic effects, has wound-healing effects, and is immuno-enhancing. L-ornithine is abundant in a number of food items such as wild rices, brazil nuts, common oregano, and common grapes. L-ornithine can be found throughout most human tissues; and in most biofluids, some of which include blood, urine, cerebrospinal fluid (CSF), sweat, saliva, and feces. Within the cell, L-ornithine is located in the mitochondria and the cytoplasm. L-ornithine exists in all living species, from bacteria to humans. In humans, L-ornithine is involved in numerous metabolic disorders, some of which include, ornithine transcarbamylase deficiency (OTC deficiency), argininemia, and guanidinoacetate methyltransferase deficiency (GAMT deficiency). Moreover, Ornithine is found to be associated with cystinuria, hyperdibasic aminoaciduria I, and lysinuric protein intolerance, which are inborn errors of metabolism. Ornithine is produced in the urea cycle through the cleavage of urea from arginine. It is a central part of the urea cycle, which allows for the disposal of excess nitrogen. L-Ornithine is also a precursor of citrulline and arginine. In order for ornithine produced in the cytosol to be converted to citrulline, it must first cross the inner mitochondrial membrane into the mitochondrial matrix where it is carbamylated by ornithine transcarbamylase. This transfer is mediated by the mitochondrial ornithine transporter (SLC25A15; AF112968; ORNT1). Mutations in the mitochondrial ornithine transporter result in hyperammonemia, hyperornithinemia, homocitrullinuria (HHH) syndrome, a disorder of the urea cycle (PMID: 16256388 ). The pathophysiology of the disease may involve diminished ornithine transport into mitochondria, resulting in ornithine accumulation in the cytoplasm and reduced ability to clear carbamoyl phosphate and ammonia loads (OMIM 838970 ). |
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Structure | |
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Synonyms | Value | Source |
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(S)-2,5-Diaminopentanoate | ChEBI | (S)-2,5-Diaminopentanoic acid | ChEBI | (S)-2,5-Diaminovaleric acid | ChEBI | (S)-alpha,delta-Diaminovaleric acid | ChEBI | (S)-Ornithine | ChEBI | (S)-2,5-Diaminovalerate | Generator | (S)-a,delta-Diaminovalerate | Generator | (S)-a,delta-Diaminovaleric acid | Generator | (S)-alpha,delta-Diaminovalerate | Generator | (S)-Α,δ-diaminovalerate | Generator | (S)-Α,δ-diaminovaleric acid | Generator | (S)-a,Δ-diaminovalerate | HMDB | (S)-a,Δ-diaminovaleric acid | HMDB | (+)-S-Ornithine | HMDB | (S)-a,D-Diaminovalerate | HMDB | (S)-a,D-Diaminovaleric acid | HMDB | 5-Amino-L-norvaline | HMDB | L-(-)-Ornithine | HMDB | L-Ornithine | HMDB | 2,5-Diaminopentanoic acid | HMDB | Ornithine dihydrochloride, (L)-isomer | HMDB | Ornithine hydrochloride, (D)-isomer | HMDB | Ornithine, (D)-isomer | HMDB | Ornithine, (L)-isomer | HMDB | 2,5 Diaminopentanoic acid | HMDB | Ornithine monoacetate, (L)-isomer | HMDB | Ornithine monohydrochloride, (D)-isomer | HMDB | Ornithine monohydrochloride, (DL)-isomer | HMDB | Ornithine phosphate (1:1), (L)-isomer | HMDB | Ornithine sulfate (1:1), (L)-isomer | HMDB | Ornithine hydrochloride, (DL)-isomer | HMDB | Ornithine hydrochloride, (L)-isomer | HMDB | Ornithine monohydrobromide, (L)-isomer | HMDB | Ornithine, (DL)-isomer | HMDB |
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Chemical Formula | C5H12N2O2 |
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Average Molecular Weight | 132.161 |
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Monoisotopic Molecular Weight | 132.089877638 |
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IUPAC Name | (2S)-2,5-diaminopentanoic acid |
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Traditional Name | ornithine |
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CAS Registry Number | 3184-13-2 |
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SMILES | NCCC[C@H](N)C(O)=O |
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InChI Identifier | InChI=1S/C5H12N2O2/c6-3-1-2-4(7)5(8)9/h4H,1-3,6-7H2,(H,8,9)/t4-/m0/s1 |
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InChI Key | AHLPHDHHMVZTML-BYPYZUCNSA-N |
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Chemical Taxonomy |
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Description | belongs to the class of organic compounds known as l-alpha-amino acids. These are alpha amino acids which have the L-configuration of the alpha-carbon atom. |
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Kingdom | Organic compounds |
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Super Class | Organic acids and derivatives |
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Class | Carboxylic acids and derivatives |
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Sub Class | Amino acids, peptides, and analogues |
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Direct Parent | L-alpha-amino acids |
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Alternative Parents | |
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Substituents | - L-alpha-amino acid
- Fatty acid
- Amino acid
- Carboxylic acid
- Monocarboxylic acid or derivatives
- Amine
- Hydrocarbon derivative
- Organic oxide
- Organopnictogen compound
- Primary amine
- Organooxygen compound
- Organonitrogen compound
- Organic oxygen compound
- Primary aliphatic amine
- Organic nitrogen compound
- Carbonyl group
- Aliphatic acyclic compound
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Molecular Framework | Aliphatic acyclic compounds |
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External Descriptors | |
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Ontology |
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Physiological effect | Health effect: |
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Disposition | Route of exposure: Source: Biological location: |
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Process | Naturally occurring process: |
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Role | Industrial application: |
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Physical Properties |
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State | Solid |
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Experimental Properties | Property | Value | Reference |
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Melting Point | 140 °C | Not Available | Boiling Point | Not Available | Not Available | Water Solubility | 620 mg/mL | Not Available | LogP | -4.22 | SANGSTER (1994) |
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Predicted Properties | |
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| Spectrum Type | Description | Splash Key | View |
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GC-MS | GC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (2 TMS) | splash10-0006-1920000000-b0357b8c9888abda7d80 | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (Non-derivatized) | splash10-0006-0910000000-8aaa0faabf1429b90611 | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Pegasus III TOF-MS system, Leco; GC 6890, Agilent Technologies) (2 TMS) | splash10-00di-7910000000-5fa118444ceb45204aa3 | Spectrum | GC-MS | GC-MS Spectrum - GC-MS (3 TMS) | splash10-006x-3910000000-f6d0c6492f2cab33a392 | Spectrum | GC-MS | GC-MS Spectrum - GC-MS (3 TMS) | splash10-00dr-2900000000-77222ff2d0118d3d3b57 | Spectrum | GC-MS | GC-MS Spectrum - GC-MS (4 TMS) | splash10-0006-1910000000-53c73c4fa3665c44d3b9 | Spectrum | GC-MS | GC-MS Spectrum - GC-MS (5 TMS) | splash10-03di-1691000000-dc14976cfee86cc828b9 | Spectrum | GC-MS | GC-MS Spectrum - EI-B (Non-derivatized) | splash10-0006-0920000000-f65f61e4a3739eabb1d1 | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Non-derivatized) | splash10-0006-1920000000-b0357b8c9888abda7d80 | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Non-derivatized) | splash10-0006-0910000000-8aaa0faabf1429b90611 | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Non-derivatized) | splash10-00di-7910000000-5fa118444ceb45204aa3 | Spectrum | GC-MS | GC-MS Spectrum - GC-MS (Non-derivatized) | splash10-006x-3910000000-f6d0c6492f2cab33a392 | Spectrum | GC-MS | GC-MS Spectrum - GC-MS (Non-derivatized) | splash10-00dr-2900000000-77222ff2d0118d3d3b57 | Spectrum | GC-MS | GC-MS Spectrum - GC-MS (Non-derivatized) | splash10-0006-1910000000-53c73c4fa3665c44d3b9 | Spectrum | GC-MS | GC-MS Spectrum - GC-MS (Non-derivatized) | splash10-03di-1691000000-dc14976cfee86cc828b9 | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Non-derivatized) | splash10-0006-0900000000-f59681b9f46f1b738487 | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Non-derivatized) | splash10-0006-0900000000-3048477975b51ae176af | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Non-derivatized) | splash10-00dr-2900000000-8d1a2cc0a88f7d9216e1 | Spectrum | GC-MS | GC-MS Spectrum - GC-EI-TOF (Non-derivatized) | splash10-0udi-1900000000-bc40b76e8b03ef7a08f0 | Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positive | splash10-001l-9000000000-50fe14c2cb68fd09e32f | Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - GC-MS (1 TMS) - 70eV, Positive | splash10-0089-9300000000-bbfdea03043e52ad8a15 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - Quattro_QQQ 10V, Positive (Annotated) | splash10-01b9-6900000000-8fe592b77d2d8e4ae704 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - Quattro_QQQ 25V, Positive (Annotated) | splash10-00di-9000000000-462b84db532c33527580 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - Quattro_QQQ 40V, Positive (Annotated) | splash10-00di-9000000000-9c9c28d2e40d5eadacd2 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positive | splash10-001i-0900000000-e44e06092c06bb4791af | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positive | splash10-014i-9000000000-4d6ccc429f5155b24654 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positive | splash10-014i-0900000000-dcad699e8ed7e1b19860 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positive | splash10-001i-0900000000-7b130437d4e1ceea277b | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positive | splash10-001i-0900000000-0fae230bc6b21623a4bf | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positive | splash10-014i-9000000000-5a350a8e7c607a8b9a60 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Positive | splash10-014i-0900000000-516054b6c2f3cd4a1d02 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Negative | splash10-000i-0793321000-9fef988b5ce019f84642 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Negative | splash10-03di-0900000000-a612df8df5f8ba1ff7f3 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Negative | splash10-001i-0910000000-97fad20414656e2b7b93 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-ITFT (LTQ Orbitrap XL, Thermo Scientfic) , Negative | splash10-01di-0490000000-1b137b937beb110d2e4b | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 10V, Negative | splash10-001i-0900000000-e3fc95eb909e45d8e648 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 20V, Negative | splash10-001i-1900000000-cdd9aac89a5a71814ff3 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 30V, Negative | splash10-001r-9500000000-f1cc3eccf3f5ab734222 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 10V, Positive | splash10-0159-0900000000-93ce7b142d1f82f17e95 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 20V, Positive | splash10-00di-9200000000-186f270471bdec40f804 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 30V, Positive | splash10-00di-9000000000-ebbdf0ab6d3180cba1a5 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 40V, Positive | splash10-00di-9000000000-207bcc826fb2238c2cc5 | Spectrum | LC-MS/MS | LC-MS/MS Spectrum - LC-ESI-QQ (API3000, Applied Biosystems) 50V, Positive | splash10-00di-9000000000-a2f9a950fb23a6b18857 | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 10V, Positive | splash10-01c9-9700000000-0364d35bb1a7c10a09c7 | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 20V, Positive | splash10-00dr-9100000000-9c4015733140885b4957 | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 40V, Positive | splash10-00dl-9000000000-b32e7180e30a835008bb | Spectrum | 1D NMR | 1H NMR Spectrum | Not Available | Spectrum | 1D NMR | 13C NMR Spectrum | Not Available | Spectrum | 1D NMR | 1H NMR Spectrum | Not Available | Spectrum | 2D NMR | [1H,1H] 2D NMR Spectrum | Not Available | Spectrum | 2D NMR | [1H,13C] 2D NMR Spectrum | Not Available | Spectrum |
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Disease References | Alzheimer's disease |
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- 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:17031479 ]
- Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
| Uremia |
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- Canepa A, Filho JC, Gutierrez A, Carrea A, Forsberg AM, Nilsson E, Verrina E, Perfumo F, Bergstrom J: Free amino acids in plasma, red blood cells, polymorphonuclear leukocytes, and muscle in normal and uraemic children. Nephrol Dial Transplant. 2002 Mar;17(3):413-21. [PubMed:11865086 ]
| Ornithine transcarbamylase deficiency |
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- Harada E, Nishiyori A, Tokunaga Y, Watanabe Y, Kuriya N, Kumashiro R, Kuno T, Kuromaru R, Hirose S, Ichikawa K, Yoshino M: Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile. Pediatr Int. 2006 Apr;48(2):105-11. [PubMed:16635166 ]
| Colorectal cancer |
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- Ni Y, Xie G, Jia W: Metabonomics of human colorectal cancer: new approaches for early diagnosis and biomarker discovery. J Proteome Res. 2014 Sep 5;13(9):3857-70. doi: 10.1021/pr500443c. Epub 2014 Aug 14. [PubMed:25105552 ]
- Sinha R, Ahn J, Sampson JN, Shi J, Yu G, Xiong X, Hayes RB, Goedert JJ: Fecal Microbiota, Fecal Metabolome, and Colorectal Cancer Interrelations. PLoS One. 2016 Mar 25;11(3):e0152126. doi: 10.1371/journal.pone.0152126. eCollection 2016. [PubMed:27015276 ]
- Goedert JJ, Sampson JN, Moore SC, Xiao Q, Xiong X, Hayes RB, Ahn J, Shi J, Sinha R: Fecal metabolomics: assay performance and association with colorectal cancer. Carcinogenesis. 2014 Sep;35(9):2089-96. doi: 10.1093/carcin/bgu131. Epub 2014 Jul 18. [PubMed:25037050 ]
| Schizophrenia |
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- He Y, Yu Z, Giegling I, Xie L, Hartmann AM, Prehn C, Adamski J, Kahn R, Li Y, Illig T, Wang-Sattler R, Rujescu D: Schizophrenia shows a unique metabolomics signature in plasma. Transl Psychiatry. 2012 Aug 14;2:e149. doi: 10.1038/tp.2012.76. [PubMed:22892715 ]
| Early preeclampsia |
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- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ]
| Pregnancy |
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- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomics and first-trimester prediction of early-onset preeclampsia. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1840-7. doi: 10.3109/14767058.2012.680254. Epub 2012 Apr 28. [PubMed:22494326 ]
- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ]
- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester Down syndrome prediction. Am J Obstet Gynecol. 2013 May;208(5):371.e1-8. doi: 10.1016/j.ajog.2012.12.035. Epub 2013 Jan 8. [PubMed:23313728 ]
- Bahado-Singh RO, Akolekar R, Chelliah A, Mandal R, Dong E, Kruger M, Wishart DS, Nicolaides K: Metabolomic analysis for first-trimester trisomy 18 detection. Am J Obstet Gynecol. 2013 Jul;209(1):65.e1-9. doi: 10.1016/j.ajog.2013.03.028. Epub 2013 Mar 25. [PubMed:23535240 ]
- Bahado-Singh RO, Ertl R, Mandal R, Bjorndahl TC, Syngelaki A, Han B, Dong E, Liu PB, Alpay-Savasan Z, Wishart DS, Nicolaides KH: Metabolomic prediction of fetal congenital heart defect in the first trimester. Am J Obstet Gynecol. 2014 Sep;211(3):240.e1-240.e14. doi: 10.1016/j.ajog.2014.03.056. Epub 2014 Apr 1. [PubMed:24704061 ]
| Late-onset preeclampsia |
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- Bahado-Singh RO, Akolekar R, Mandal R, Dong E, Xia J, Kruger M, Wishart DS, Nicolaides K: First-trimester metabolomic detection of late-onset preeclampsia. Am J Obstet Gynecol. 2013 Jan;208(1):58.e1-7. doi: 10.1016/j.ajog.2012.11.003. Epub 2012 Nov 13. [PubMed:23159745 ]
| Lysinuric protein intolerance |
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- Kurko J, Tringham M, Tanner L, Nanto-Salonen K, Vaha-Makila M, Nygren H, Poho P, Lietzen N, Mattila I, Olkku A, Hyotylainen T, Oresic M, Simell O, Niinikoski H, Mykkanen J: Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI). Metabolism. 2016 Sep;65(9):1361-75. doi: 10.1016/j.metabol.2016.05.012. Epub 2016 May 27. [PubMed:27506743 ]
- Habib A, Azize NA, Yakob Y, Md Yunus Z, Wee TK: Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance. Malays J Pathol. 2016 Dec;38(3):305-310. [PubMed:28028301 ]
- Olli Simell (1995). Lysinuric Protein Intolerance and Other Cationic Aminoacidurias. The metabolic and molecular bases of inherited disease, 7/e; Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle; McGraw-Hill Inc. (1995) DOI: 10.1036/ommbid.225. McGraw-Hill Inc..
| Fumarase deficiency |
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- Allegri G, Fernandes MJ, Scalco FB, Correia P, Simoni RE, Llerena JC Jr, de Oliveira ML: Fumaric aciduria: an overview and the first Brazilian case report. J Inherit Metab Dis. 2010 Aug;33(4):411-9. doi: 10.1007/s10545-010-9134-2. Epub 2010 Jun 15. [PubMed:20549362 ]
| N-acetylglutamate synthetase deficiency |
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- Guffon N, Vianey-Saban C, Bourgeois J, Rabier D, Colombo JP, Guibaud P: A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. J Inherit Metab Dis. 1995;18(1):61-5. [PubMed:7623444 ]
- Schubiger G, Bachmann C, Barben P, Colombo JP, Tonz O, Schupbach D: N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication. Eur J Pediatr. 1991 Mar;150(5):353-6. [PubMed:2044610 ]
| Obesity |
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- Simone Wahl, Christina Holzapfel, Zhonghao Yu, Michaela Breier, Ivan Kondofersky, Christiane Fuchs, Paula Singmann, Cornelia Prehn, Jerzy Adamski, Harald Grallert, Thomas Illig, Rui Wang-Sattler, Thomas Reinehr (2013). Metabolomics reveals determinants of weight loss during lifestyle intervention in obese children. Metabolomics.
| Pearson Syndrome |
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- Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N: Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939. [PubMed:25691415 ]
| Hyperornithinemia with Gyrate Atrophy |
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- Simell O, Takki K: Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet. 1973 May 12;1(7811):1031-3. [PubMed:4122112 ]
| Cutis laxa, autosomal recessive, type IIIA |
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- Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D: Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. [PubMed:11092761 ]
| Myopathy, lactic acidosis, and sideroblastic anemia 1 |
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- Parfait B, de Lonlay P, von Kleist-Retzow JC, Cormier-Daire V, Chretien D, Rotig A, Rabier D, Saudubray JM, Rustin P, Munnich A: The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr. 1999 Jan;158(1):55-8. [PubMed:9950309 ]
| Leukemia |
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- Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed:15911239 ]
| Autism |
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- De Angelis M, Piccolo M, Vannini L, Siragusa S, De Giacomo A, Serrazzanetti DI, Cristofori F, Guerzoni ME, Gobbetti M, Francavilla R: Fecal microbiota and metabolome of children with autism and pervasive developmental disorder not otherwise specified. PLoS One. 2013 Oct 9;8(10):e76993. doi: 10.1371/journal.pone.0076993. eCollection 2013. [PubMed:24130822 ]
| Crohn's disease |
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- Kolho KL, Pessia A, Jaakkola T, de Vos WM, Velagapudi V: Faecal and Serum Metabolomics in Paediatric Inflammatory Bowel Disease. J Crohns Colitis. 2017 Mar 1;11(3):321-334. doi: 10.1093/ecco-jcc/jjw158. [PubMed:27609529 ]
| Ulcerative colitis |
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- Kolho KL, Pessia A, Jaakkola T, de Vos WM, Velagapudi V: Faecal and Serum Metabolomics in Paediatric Inflammatory Bowel Disease. J Crohns Colitis. 2017 Mar 1;11(3):321-334. doi: 10.1093/ecco-jcc/jjw158. [PubMed:27609529 ]
| Perillyl alcohol administration for cancer treatment |
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- Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
| Pancreatic cancer |
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- Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
| Periodontal disease |
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- Sugimoto M, Wong DT, Hirayama A, Soga T, Tomita M: Capillary electrophoresis mass spectrometry-based saliva metabolomics identified oral, breast and pancreatic cancer-specific profiles. Metabolomics. 2010 Mar;6(1):78-95. Epub 2009 Sep 10. [PubMed:20300169 ]
| Frontotemporal dementia |
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- Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
| Lewy body disease |
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- Tsuruoka M, Hara J, Hirayama A, Sugimoto M, Soga T, Shankle WR, Tomita M: Capillary electrophoresis-mass spectrometry-based metabolome analysis of serum and saliva from neurodegenerative dementia patients. Electrophoresis. 2013 Oct;34(19):2865-72. doi: 10.1002/elps.201300019. Epub 2013 Sep 6. [PubMed:23857558 ]
| Cystinuria |
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- Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Soderkvist P, Denneberg T: Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds. Urol Res. 2003 Dec;31(6):417-25. Epub 2003 Oct 25. [PubMed:14586528 ]
- G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
| Eosinophilic esophagitis |
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- (). Mordechai, Hien, and David S. Wishart. .
| Hyperdibasic aminoaciduria I |
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- Whelan DT, Scriver CR: Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport. Pediatr Res. 1968 Nov;2(6):525-34. [PubMed:5727921 ]
| Hyperlysinemia I, familial |
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- Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Duenas B, Perez-Cerda C, Artuch R: Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6. [PubMed:23890588 ]
| Hyperlysinuria |
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- Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Soderkvist P, Denneberg T: Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds. Urol Res. 2003 Dec;31(6):417-25. Epub 2003 Oct 25. [PubMed:14586528 ]
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General References | - Mayer UM: [Hyperornithinaemia in patients with retinal dystrophy]. Ophthalmologe. 2003 Jan;100(1):55-61. [PubMed:12557027 ]
- Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed:15911239 ]
- 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:12297216 ]
- Gray RG, Green A, Hall S, McKeown C: Prenatal exclusion of the HHH syndrome. Prenat Diagn. 1995 May;15(5):474-6. [PubMed:7644438 ]
- Peters T, Thaete C, Wolf S, Popp A, Sedlmeier R, Grosse J, Nehls MC, Russ A, Schlueter V: A mouse model for cystinuria type I. Hum Mol Genet. 2003 Sep 1;12(17):2109-20. [PubMed:12923163 ]
- Silwood CJ, Lynch E, Claxson AW, Grootveld MC: 1H and (13)C NMR spectroscopic analysis of human saliva. J Dent Res. 2002 Jun;81(6):422-7. [PubMed:12097436 ]
- Jensen TG, Sullivan DM, Morgan RA, Taichman LB, Nussenblatt RB, Blaese RM, Csaky KG: Retrovirus-mediated gene transfer of ornithine-delta-aminotransferase into keratinocytes from gyrate atrophy patients. Hum Gene Ther. 1997 Nov 20;8(17):2125-32. [PubMed:9414260 ]
- Sell DR, Monnier VM: Ornithine is a novel amino acid and a marker of arginine damage by oxoaldehydes in senescent proteins. Ann N Y Acad Sci. 2005 Jun;1043:118-28. [PubMed:16037230 ]
- Nicholson JK, O'Flynn MP, Sadler PJ, Macleod AF, Juul SM, Sonksen PH: Proton-nuclear-magnetic-resonance studies of serum, plasma and urine from fasting normal and diabetic subjects. Biochem J. 1984 Jan 15;217(2):365-75. [PubMed:6696735 ]
- Stadler S, Gempel K, Bieger I, Pontz BF, Gerbitz KD, Bauer MF, Hofmann S: Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry. J Inherit Metab Dis. 2001 Jun;24(3):370-8. [PubMed:11486903 ]
- Engelborghs S, Marescau B, De Deyn PP: Amino acids and biogenic amines in cerebrospinal fluid of patients with Parkinson's disease. Neurochem Res. 2003 Aug;28(8):1145-50. [PubMed:12834252 ]
- Gokmen SS, Aygit AC, Ayhan MS, Yorulmaz F, Gulen S: Significance of arginase and ornithine in malignant tumors of the human skin. J Lab Clin Med. 2001 May;137(5):340-4. [PubMed:11329531 ]
- Hagenfeldt L, Bjerkenstedt L, Edman G, Sedvall G, Wiesel FA: Amino acids in plasma and CSF and monoamine metabolites in CSF: interrelationship in healthy subjects. J Neurochem. 1984 Mar;42(3):833-7. [PubMed:6198473 ]
- Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. doi: 10.1038/nature07762. [PubMed:19212411 ]
- Morizono H, Woolston JE, Colombini M, Tuchman M: The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter. Mol Genet Metab. 2005 Dec;86(4):431-40. Epub 2005 Oct 26. [PubMed:16256388 ]
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