Abnormal metabolites of isoleucine in a patient with propionyl??CoA carboxylase deficiency
…, W Weyler, WL Nyhan, C de Céspedes…
Index: Sweetman; Weyler; Nyhan; de Cespedes; Loria; Estrada Biomedical Mass Spectrometry, 1978 , vol. 5, # 3 p. 198 - 207
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Citation Number: 58
Abstract
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. The isomers 3-hydroxyvaleric acid and 3-oxovaleric acid were found, which may be products of the condensation of propionyl-CoA with acetyl-CoA ...
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