The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.
The identification of (E)-2-methylglutaconic acid, a 'new' metabolite of isoleucine, is described. The substance was detected in urine samples from patients with propionic acidaemia, methylmalonic acidaemia and so-called beta-ketothiolase deficiency; in the majority of cases together with N-tiglylglycine. (E)-2-Methylglutaconic acid is thought to be the end product of the 3-methylcrotonyl-CoA carboxylase-catalysed carboxylation of tiglyl-CoA. Prerequisites for the quantitative gas chromatographic analysis of the unstable 2- (and 3-) methyl-glutaconic acid ditrimethylsilyl ester are given.
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000214:Acyl Coenzyme A / Q000378:metabolism; D000217:Acyltransferases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000178:diet therapy / Q000652:urine*; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000138:chemical synthesis / Q000378:metabolism / Q000652:urine*; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007532:Isoleucine / Q000378:metabolism*; D008314:Malonates / Q000097:blood*; D008764:Methylmalonic Acid / Q000097:blood* / Q000652:urine; D011422:Propionates / Q000097:blood* / Q000652:urine; D012016:Reference Values
D000214:Acyl Coenzyme A; D005977:Glutarates; D008314:Malonates; D011422:Propionates; D007532:Isoleucine; C003603:tiglylglycine; C032770:2-methylglutaconic acid; C033618:tiglyl-coenzyme A; D008764:Methylmalonic Acid; D000217:Acyltransferases; D000102:Acetyl-CoA C-Acyltransferase; D005998:Glycine