Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.
A number of previously unrecognized abnormal metabolites have been identified and quantitated in the urine of a patient with an inherited deficiency of propionyl-CoA carboxylase. These included the isoleucine metabolites 2-methyl-3-hydroxybutyric acid and 2-methylacetoacetic acid. These isomers 3-hydroxyvaleric acid and 3-oxovaleric acid were found, which may be products of the condensation of propionyl-CoA with acetyl-CoA catalyzed by 3-oxoacyl-CoA thiolases. Following a load of isoleucine, 2-methylbutyrylglycine was identified. This metabolite has not previously been observed in man.
D000090:Acetoacetates / Q000652:urine; D002262:Carboxy-Lyases / Q000172:deficiency*; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D006885:Hydroxybutyrates / Q000652:urine; D007532:Isoleucine / Q000378:metabolism*; D007651:Keto Acids / Q000652:urine; D010421:Pentanoic Acids / Q000652:urine; D011422:Propionates / Q000097:blood
D000090:Acetoacetates; D006880:Hydroxy Acids; D006885:Hydroxybutyrates; D007651:Keto Acids; D010421:Pentanoic Acids; D011422:Propionates; D007532:Isoleucine; C016579:2-methyl-3-hydroxybutyric acid; C016567:2-methylbutyrylglycine; D002262:Carboxy-Lyases; D005998:Glycine