The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency.
THe urine of two patients with propionic acidaemia contained 3-ethyl-3-hydroxyglutaric acid which has a propionyl residue in place of one of the acetyl residues of the normal metabolite 3-methyl-3-hydroxyglutaric acid. Related compounds, 2,3-dimethyl-3-hydroxyglutaric acid, 2-methyl-3-ethyl-3-hydroxyglutaric acid and 2,3,4-trimethyl-3-hydroxyglutaric acid, could not be detected in propionic acidaemia urine, but 2,3-dimethyl-3-hydroxyglutaric acid was excreted by a patient with beta-ketothiolase deficiency.
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000214:Acyl Coenzyme A / Q000378:metabolism; D000217:Acyltransferases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D005260:Female; D005977:Glutarates / Q000138:chemical synthesis / Q000652:urine*; D006801:Humans; D006904:Hydroxymethylglutaryl-CoA Synthase / Q000378:metabolism; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011422:Propionates / Q000097:blood*
D000214:Acyl Coenzyme A; D005977:Glutarates; D011422:Propionates; C009061:propionyl-coenzyme A; D000217:Acyltransferases; D000102:Acetyl-CoA C-Acyltransferase; D006904:Hydroxymethylglutaryl-CoA Synthase