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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 | 2020-10-09 20:59:10 UTC |
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HMDB ID | HMDB0000354 |
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Secondary Accession Numbers | - HMDB0000420
- HMDB0000605
- HMDB0002187
- HMDB00354
- HMDB00420
- HMDB00605
- HMDB02187
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Metabolite Identification |
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Common Name | 2-Methyl-3-hydroxybutyric acid |
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Description | 3-Hydroxy-2-methyl-butanoic acid (HMBA) is a normal urinary metabolite involved in the isoleucine catabolism, as well as presumably beta-oxidation of fatty acids and ketogenesis, excreted in abnormally high amounts in beta-ketothiolase deficiency, which is a genetic disorder. Differences in the enantiomeric ratio of HMBA may originate from the enantioselectivity of different enzyme systems (PMID 10755375 ). |
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Structure | |
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Synonyms | Value | Source |
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2-Methyl-3-hydroxybutanoic acid | ChEBI | 3-Hydroxy-2-methylbutyric acid | ChEBI | 2-Methyl-3-hydroxybutanoate | Generator | 3-Hydroxy-2-methylbutyrate | Generator | 2-Methyl-3-hydroxybutyrate | Generator | 3-Hydroxy-2-methyl-butyrate | HMDB | 3-Hydroxy-2-methyl-butyric acid | HMDB | 3-Hydroxy-2-methylbutanoate | HMDB | 3-Hydroxy-2-methylbutanoic acid | HMDB | a-Methyl-b-hydroxybutyrate | HMDB | a-Methyl-b-hydroxybutyric acid | HMDB | alpha-Methyl-beta-hydroxybutyrate | HMDB | alpha-Methyl-beta-hydroxybutyric acid | HMDB | Nilate | HMDB | Nilic acid | HMDB | 2-Methyl-3-hydroxybutyric acid, (R-(r*,s*))-isomer | HMDB |
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Chemical Formula | C5H10O3 |
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Average Molecular Weight | 118.1311 |
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Monoisotopic Molecular Weight | 118.062994186 |
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IUPAC Name | 3-hydroxy-2-methylbutanoic acid |
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Traditional Name | nilic acid |
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CAS Registry Number | 473-86-9 |
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SMILES | CC(O)C(C)C(O)=O |
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InChI Identifier | InChI=1S/C5H10O3/c1-3(4(2)6)5(7)8/h3-4,6H,1-2H3,(H,7,8) |
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InChI Key | VEXDRERIMPLZLU-UHFFFAOYSA-N |
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Chemical Taxonomy |
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Description | belongs to the class of organic compounds known as hydroxy fatty acids. These are fatty acids in which the chain bears a hydroxyl group. |
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Kingdom | Organic compounds |
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Super Class | Lipids and lipid-like molecules |
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Class | Fatty Acyls |
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Sub Class | Fatty acids and conjugates |
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Direct Parent | Hydroxy fatty acids |
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Alternative Parents | |
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Substituents | - Beta-hydroxy acid
- Branched fatty acid
- Hydroxy fatty acid
- Short-chain hydroxy acid
- Methyl-branched fatty acid
- Hydroxy acid
- Secondary alcohol
- Monocarboxylic acid or derivatives
- Carboxylic acid
- Carboxylic acid derivative
- Organooxygen compound
- Alcohol
- Carbonyl group
- Hydrocarbon derivative
- Organic oxide
- Organic oxygen compound
- 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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Disposition | Route of exposure: Source: Biological location: |
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Process | Naturally occurring process: |
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Role | Industrial application: Biological role: |
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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 | Not Available | Not Available | Boiling Point | Not Available | Not Available | Water Solubility | Not Available | Not Available | LogP | Not Available | Not Available |
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Predicted Properties | |
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Spectra |
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| Spectrum Type | Description | Splash Key | View |
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Predicted GC-MS | Predicted GC-MS Spectrum - GC-MS (Non-derivatized) - 70eV, Positive | splash10-0097-9100000000-4296c67313a78a015074 | Spectrum | Predicted GC-MS | Predicted GC-MS Spectrum - GC-MS (2 TMS) - 70eV, Positive | splash10-00ds-9610000000-ea139d8674dafe6ab92a | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 10V, Positive | splash10-0uxr-3900000000-43c640882c221c34cff4 | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 20V, Positive | splash10-0zfr-9500000000-f67232e28fb95b61d1f2 | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 40V, Positive | splash10-0a4i-9000000000-da7c5873617fe20d6385 | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 10V, Negative | splash10-014i-5900000000-bab83930d1557839e6f7 | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 20V, Negative | splash10-05fr-9100000000-50701029b9e5b3af2fbf | Spectrum | Predicted LC-MS/MS | Predicted LC-MS/MS Spectrum - 40V, Negative | splash10-0a4i-9000000000-dd1dac699c164a7b71f5 | Spectrum |
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Biological Properties |
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Cellular Locations | - Cytoplasm (predicted from logP)
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Biospecimen Locations | |
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Tissue Locations | Not Available |
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Pathways | |
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Normal Concentrations |
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Urine | Detected and Quantified | <10 umol/mmol creatinine | Adult (>18 years old) | Both | Normal | | details | Urine | Detected but not Quantified | Not Quantified | Adult (>18 years old) | Both | Normal | | details | Urine | Detected and Quantified | 5.0 (1.0-9.0) umol/mmol creatinine | Children (1-13 years old) | Both | Normal | | details | Urine | Detected and Quantified | 0-0.8 umol/mmol creatinine | Infant (0-1 year old) | Male | Normal | | details | Urine | Detected and Quantified | 0-1.2 umol/mmol creatinine | Infant (0-1 year old) | Male | Normal | | details | Urine | Detected and Quantified | 0-1.8 umol/mmol creatinine | Infant (0-1 year old) | Female | Normal | | details | Urine | Detected and Quantified | 0-4.1 umol/mmol creatinine | Infant (0-1 year old) | Female | Normal | | details | Urine | Detected and Quantified | <30 umol/mmol creatinine | Children (1 - 18 years old) | Both | Normal | | details | Urine | Detected but not Quantified | Not Quantified | Adult (>18 years old) | Both | Normal | | details | Urine | Detected and Quantified | 4.2 (1.6-6.7) umol/mmol creatinine | Adult (>18 years old) | Both | Normal | | details | Urine | Detected and Quantified | 0.1 (0.1-4.1) umol/mmol creatinine | Newborn (0-30 days old) | Both | Normal | | details | Urine | Detected and Quantified | 0.1 (0.1-5.9) umol/mmol creatinine | Infant (0-1 year old) | Both | Normal | | details | Urine | Detected and Quantified | 1.5 (0.1-7.0) umol/mmol creatinine | Children (1-13 years old) | Both | Normal | | details | Urine | Detected and Quantified | 1.7 (0.6-2.5) umol/mmol creatinine | Children (1-13 years old) | Both | Normal | | details | Urine | Detected and Quantified | 1.2 (0.1-3.8) umol/mmol creatinine | Adolescent (13-18 years old) | Both | Normal | | details | Urine | Detected and Quantified | 4.0 (1.3-6.2) umol/mmol creatinine | Adult (>18 years old) | Both | Normal | | details | Urine | Detected and Quantified | 12-May umol/mmol creatinine | Not Specified | Not Specified | Normal | | details |
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Abnormal Concentrations |
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Urine | Detected and Quantified | 160.2-405.7 umol/mmol creatinine | Children (1-13 years old) | Male | Beta-ketothiolase deficiency | | details | Urine | Detected and Quantified | 441 umol/mmol creatinine | Newborn (0-30 days old) | Not Available | Beta-ketothiolase deficiency | | details | Urine | Detected and Quantified | 370.837-809.510 umol/mmol creatinine | Children (1 - 13 years old) | Female | Ketosis | | details | Urine | Detected and Quantified | 1 umol/mmol creatinine | Adult (>18 years old) | Not Specified | Propionic acidemia | | details | Urine | Detected and Quantified | 5.5 (0.0-11.0) umol/mmol creatinine | Adult (>18 years old) | Both | Beta-ketothiolase deficiency | | details | Urine | Detected and Quantified | 2300.0 (200.0-4400.0) umol/mmol creatinine | Children (1-13 years old) | Both | Beta-Ketothiolase deficiency | | details | Urine | Detected but not Quantified | Not Quantified | Adult (>18 years old) | Both | Bladder cancer | | details | Urine | Detected and Quantified | 99 umol/mmol creatinine | Children (1-13 years old) | Female | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | | details | Urine | Detected and Quantified | 89-226 umol/mmol creatinine | Infant (0-1 year old) | Male | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | | details |
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Associated Disorders and Diseases |
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Disease References | Beta-ketothiolase deficiency |
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- Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM, Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N: Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. JIMD Rep. 2012;3:107-15. doi: 10.1007/8904_2011_72. Epub 2011 Sep 6. [PubMed:23430882 ]
- Scolamiero E, Cozzolino C, Albano L, Ansalone A, Caterino M, Corbo G, di Girolamo MG, Di Stefano C, Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M: Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. Mol Biosyst. 2015 Jun;11(6):1525-35. doi: 10.1039/c4mb00729h. [PubMed:25689098 ]
- G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
| Ketosis |
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- B. Middleton et al. (1986). B. Middleton et al. 3-Ketothiolase deficiency. Eur J Pediatr (1986) 144:586-589. Eur J Pediatr.
| Propionic acidemia |
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- Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG: Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. Eur J Hum Genet. 2017 Nov;25(11):1195-1201. doi: 10.1038/ejhg.2017.127. Epub 2017 Aug 30. [PubMed:28853722 ]
| 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency |
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- Perez-Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, Ramos J, Garcia-Silva MT, Beseler B, Dalmau J, Wanders RJ, Ugarte M, Ribes A: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res. 2005 Sep;58(3):488-91. [PubMed:16148061 ]
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Associated OMIM IDs | - 203750 (Beta-ketothiolase deficiency)
- 606054 (Propionic acidemia)
- 300438 (2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency)
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External Links |
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DrugBank ID | Not Available |
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Phenol Explorer Compound ID | Not Available |
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FooDB ID | FDB021977 |
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KNApSAcK ID | Not Available |
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Chemspider ID | 141015 |
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KEGG Compound ID | Not Available |
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BioCyc ID | Not Available |
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BiGG ID | Not Available |
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Wikipedia Link | Not Available |
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METLIN ID | 3786 |
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PubChem Compound | 160471 |
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PDB ID | Not Available |
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ChEBI ID | 37051 |
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Food Biomarker Ontology | Not Available |
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VMH ID | Not Available |
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MarkerDB ID | MDB00000151 |
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References |
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Synthesis Reference | Inoue, Yoshio; Sano, Fumitaka; Nakamura, Kazuhiro; Yoshie, Naoko; Saito, Yuji; Satoh, Hiroyasu; Mino, Takashi; Matsuo, Tomonori; Doi, Yoshiharu. Microstructure of copoly(3-hydroxyalkanoates) produced in the anaerobic-aerobic activated sludge process. Polymer International (1996), 39(3), 183-9. |
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Material Safety Data Sheet (MSDS) | Not Available |
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General References | - Jakobs C, Sweetman L, Nyhan WL: Hydroxy acid metabolites of branched-chain amino acids in amniotic fluid. Clin Chim Acta. 1984 Jul 16;140(2):157-66. [PubMed:6467607 ]
- Guneral F, Bachmann C: Age-related reference values for urinary organic acids in a healthy Turkish pediatric population. Clin Chem. 1994 Jun;40(6):862-6. [PubMed:8087979 ]
- Sutton VR, O'Brien WE, Clark GD, Kim J, Wanders RJ: 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2003;26(1):69-71. [PubMed:12872843 ]
- Landaas S: Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis. Clin Chim Acta. 1975 Oct 15;64(2):143-54. [PubMed:126826 ]
- Heil M, Podebrad F, Prado E, Beck T, Mosand A, Sewell AC, Bohles H, Lehnert W: Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. J Chromatogr B Biomed Sci Appl. 2000 Mar 10;739(2):313-24. [PubMed:10755375 ]
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