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  • Title: Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.
    Author: Sweetman L, Weyler W, Nyhan WL, de Céspedes C, Loria AR, Estrada Y.
    Journal: Biomed Mass Spectrom; 1978 Mar; 5(3):198-207. PubMed ID: 630060.
    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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