title: Identification of 3-hydroxy-3-ethylglutaric acid in urine of patients with propionic acidaemia.
abstract: By gas chromatographic mass spectrometric analysis, 3-hydroxy-3-ethylglutaric acid was identified in the urine of patients with propionyl CoA carboxylase deficiency. Simultaneously, large amounts of 3-hydroxyvaleric acid and 3-oxovaleric acid, as well as a number of metabolites previously well known in this disorder, were also found in the urine of the patients. It is suggested that formation of 3-oxovaleric acid and 3-hydroxyvaleric acid proceeds via 3-hydroxy-3-ethylglutaryl CoA as an intermediate by a mechanism similar to that of ketone body formation.
mesh_terms: D002262:Carboxy-Lyases / Q000172:deficiency; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D015093:Meglutol / Q000031:analogs & derivatives / Q000652:urine*; D043586:Methylmalonyl-CoA Decarboxylase; D011422:Propionates / Q000097:blood*
chemical_list: D005977:Glutarates; D011422:Propionates; C040887:3-hydroxy-3-ethylglutaric acid; D015093:Meglutol; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid