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Case Reports
. 1978 Mar;5(3):198-207.
doi: 10.1002/bms.1200050307.

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

L Sweetman, W Weyler, W L Nyhan, C de Céspedes, A R Loria, Y Estrada
Case Reports

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

L Sweetman et al. Biomed Mass Spectrom. 1978 Mar.

Abstract

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.

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