Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency

Article abstract of DOI:10.1002/bms.1200050307

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. The 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.