title: [2-Methyl-3-oxovaleric acid: a characteristic metabolite in propionic acidemia].
abstract: Urine samples from 9 patients with propionic acidemis were analyzed with respect to secondary propionyl-CoA metabolites by means of gas chromatography-mass spectrometry. A wide range of variation was observed. The presence of methylcitric and 2-methyl-3-oxovaleric acids, however, was demonstrable in all urines investigated in considerable amounts. For laboratories analyzing urinary organic acids as their methyl esters, 2-methyl-3-oxovaleric acid is considered to be of diagnostic value. In addition to the usual metabolites, the excretion of N-2-methylbutyrylglycine has been demonstrated in the urine of one patient with propionic acidemia.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D002951:Citrates / Q000652:urine; D005260:Female; D006801:Humans; D007651:Keto Acids / Q000652:urine*; D010421:Pentanoic Acids / Q000652:urine*; D011422:Propionates / Q000097:blood*; D014631:Valerates / Q000652:urine*
chemical_list: C019007:3-methylcitrate; D002951:Citrates; D007651:Keto Acids; D010421:Pentanoic Acids; D011422:Propionates; D014631:Valerates; C017517:2-methyl-3-oxovaleric acid
vernacular_title: 2-Methyl-3-oxovaleriansäure: ein charakteristischer Metabolit bei Propionacidämie.