描述
2-Methylbutyrylglycine is an acyl glycine. Acyl glycines are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Acyl glycines are produced through the action of glycine N-acyltransferase (EC 2.3.1.13) which is an enzyme that catalyzes the chemical reaction:
acyl-CoA + glycine < -- > CoA + N-acylglycine. The isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (PubMedID 15615815). A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of patients with propionyl-CoA carboxylase deficiency. These include the isoleucine metabolites, 2-methyl-3-hydroxybutyric acid and 2-methylacetoacetic acid. Additionally, 3-hydroxyvaleric acid and 3-oxovaleric acid were found, which may be products of the condensation of propionyl-CoA with acetyl-CoA catalyzed by 3-oxoacyl-CoA thiolases. Following a load of isoleucine, 2-methylbutyrylglycine was identified. This metabolite has not previously been observed in man. (PMID: 630060) [HMDB]
InChI标识符
InChI=1S/C7H13NO3/c1-3-5(2)7(11)8-4-6(9)10/h5H,3-4H2,1-2H3,(H,8,11)(H,9,10)