描述
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) [HMDB]
InChI标识符
InChI=1S/C5H8O3/c1-3(4(2)6)5(7)8/h3H,1-2H3,(H,7,8)