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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 | 2006-08-13 04:36:31 UTC |
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Update Date | 2017-12-07 01:52:41 UTC |
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HMDB ID | HMDB0003771 |
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Secondary Accession Numbers | |
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Metabolite Identification |
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Common Name | 2-Methylacetoacetic acid |
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Description | 2-Methylacetoacetic acid is a metabolite that has an increased excretion in patients with acetoacetyl-CoA thiolase (EC 2.3.1.9) deficiency (OMIM 607809 , ACAT1; OMIM 100678 , ACAT2; OMIM 604770 , ACAA2; OMIM 607809 ). Thiolases are ubiquitous and important enzymes. Several isoenzymes are known, which can occur in the cytosol (ACAT2), the mitochondria (ACAT1) , or the peroxisomes (ACAA2). Thiolases are CoA-dependent enzymes which catalyze the formation of a carbon-carbon bond in a Claisen condensation step and its reverse reaction via a thiolytic degradation mechanism. mitochondrial acetoacetyl-coenzyme A (CoA) thiolase (T2) is important in the pathways for the synthesis and degradation of ketone bodies as well as for the degradation of 2-methylacetoacetyl-CoA (PMID: 17371050 , 14518824 , 9744475 , 9001814 ). Moreover, 2-methylacetoacetic acid is found to be associated with beta-ketothiolase deficiency, which is also an inborn error of metabolism. |
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Structure | |
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Synonyms | Value | Source |
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2-Methyl-3-oxo-butyric acid | ChEBI | 2-Methyl-3-oxo-butyrate | Generator | 2-Methylacetoacetate | Generator | (+/-)-2-methyl-3-oxobutanoate | HMDB | (+/-)-2-methyl-3-oxobutanoic acid | HMDB | 2-Acetylpropionic acid | HMDB | 2-Methyl-3-ketobutyric acid | HMDB | 2-Methyl-3-oxo-butanoate | HMDB | 2-Methyl-3-oxo-butanoic acid | HMDB | 2-Methyl-3-oxobutanoate | HMDB | 2-Methyl-3-oxobutanoic acid | HMDB | 2-Methyl-3-oxobutyric acid | HMDB | 2-Methyl-acetoacetic acid | HMDB | 3-oxo-2-Methylbutyric acid | HMDB | a-Methylacetoacetic acid | HMDB | alpha-Methylacetoacetate | HMDB | alpha-Methylacetoacetic acid | HMDB |
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Chemical Formula | C5H8O3 |
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Average Molecular Weight | 116.1152 |
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Monoisotopic Molecular Weight | 116.047344122 |
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IUPAC Name | 2-methyl-3-oxobutanoic acid |
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Traditional Name | acetopropionic acid |
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CAS Registry Number | 2382-59-4 |
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SMILES | CC(C(C)=O)C(O)=O |
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InChI Identifier | InChI=1S/C5H8O3/c1-3(4(2)6)5(7)8/h3H,1-2H3,(H,7,8) |
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InChI Key | GCXJINGJZAOJHR-UHFFFAOYSA-N |
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Chemical Taxonomy |
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Description | This compound belongs to the class of organic compounds known as short-chain keto acids and derivatives. These are keto acids with an alkyl chain the contains less than 6 carbon atoms. |
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Kingdom | Organic compounds |
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Super Class | Organic acids and derivatives |
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Class | Keto acids and derivatives |
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Sub Class | Short-chain keto acids and derivatives |
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Direct Parent | Short-chain keto acids and derivatives |
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Alternative Parents | |
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Substituents | - Beta-keto acid
- Branched fatty acid
- Methyl-branched fatty acid
- Short-chain keto acid
- Beta-hydroxy ketone
- Fatty acyl
- 1,3-dicarbonyl compound
- Ketone
- Carboxylic acid derivative
- Carboxylic acid
- Monocarboxylic acid or derivatives
- Carbonyl group
- Hydrocarbon derivative
- Organic oxygen compound
- Organooxygen compound
- Organic oxide
- 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 | 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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Spectra | |
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Biological Properties |
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Cellular Locations | |
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Biospecimen Locations | |
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Tissue Location | Not Available |
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Pathways | Name | SMPDB/Pathwhiz | KEGG | Not Available
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Normal Concentrations |
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Blood | Expected but not Quantified | | Not Available | Not Available | Normal | | details | Urine | Detected and Quantified | 0 umol/mmol creatinine | Adult (>18 years old) | Both | Normal | | details | Urine | Detected and Quantified | <2 umol/mmol creatinine | Children (1 - 18 years old) | Both | Normal | | details |
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Abnormal Concentrations |
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Urine | Detected and Quantified | 8030 umol/mmol creatinine | Children (1-13 years old) | Not Specified | Beta-ketothiolase deficiency | | details | Urine | Detected and Quantified | 3368 umol/mmol creatinine | Children (1-13 years old) | Not Specified | Beta-ketothiolase deficiency | | details | Urine | Detected and Quantified | 325.0 (0.0-650.0) umol/mmol creatinine | Children (1-13 years old) | Both | Beta-Ketothiolase deficiency | | details |
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Associated Disorders and Diseases |
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Disease References | Beta-ketothiolase deficiency |
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- G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
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Associated OMIM IDs | - 203750 (Beta-ketothiolase 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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FoodDB ID | FDB023226 |
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KNApSAcK ID | Not Available |
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Chemspider ID | 133090 |
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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 | Not Available |
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PubChem Compound | 150996 |
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PDB ID | Not Available |
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ChEBI ID | 37079 |
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References |
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Synthesis Reference | Middleton B; Bartlett K The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria. Clinica chimica acta; international journal of clinical chemistry (1983), 128(2-3), 291-305. |
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Material Safety Data Sheet (MSDS) | Not Available |
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General References | - Haapalainen AM, Merilainen G, Pirila PL, Kondo N, Fukao T, Wierenga RK: Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. Biochemistry. 2007 Apr 10;46(14):4305-21. Epub 2007 Mar 20. [PubMed:17371050 ]
- Fukao T, Nakamura H, Song XQ, Nakamura K, Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T, Kondo N: Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Hum Mutat. 1998;12(4):245-54. [PubMed:9744475 ]
- Fukao T, Zhang GX, Sakura N, Kubo T, Yamaga H, Hazama A, Kohno Y, Matsuo N, Kondo M, Yamaguchi S, Shigematsu Y, Kondo N: The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. J Inherit Metab Dis. 2003;26(5):423-31. [PubMed:14518824 ]
- Fukao T, Kodama A, Aoyanagi N, Tsukino R, Uemura S, Song XQ, Watanebe H, Kuhara T, Matsumoto I, Orii T, Kondo N: Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Clin Genet. 1996 Oct;50(4):263-6. [PubMed:9001814 ]
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