The identification of 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid in a patient with propionic acidemia.
Two abnormal metabolites, 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid, have been identified and quantitated in the urine of a child with propionic acidemia. These metabolites may be produced as a result of the self-condensation of propionyl-CoA. Data are presented to show that the unusual ketone, 3-pentanone, which has been observed previously in the urine of patients with propionic acidemia, is produced as a result of the decarboxylation of 3-keto-2-methylvaleric acid.
D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D007231:Infant, Newborn; D007651:Keto Acids / Q000652:urine*; D007659:Ketones / Q000652:urine; D008297:Male; D013058:Mass Spectrometry / Q000379:methods; D008661:Metabolism, Inborn Errors / Q000652:urine; D010421:Pentanoic Acids / Q000652:urine*; D011422:Propionates / Q000652:urine*; D014631:Valerates / Q000652:urine*
C021047:3-keto-2-methylvaleric acid; D006880:Hydroxy Acids; D007651:Keto Acids; D007659:Ketones; D010421:Pentanoic Acids; D011422:Propionates; D014631:Valerates; C021041:3-hydroxy-2-methylvaleric acid