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

Lawrence Sweetman, Walter Weyler, William L. Nyhan, Carlos de Céspedes, Alba Rosa Loria, Yadira Estrada

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

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 catalyzed by 3‐oxoacyl‐CoA thiolases. Following a load of isoleucine, 2‐methylbutyrylglycine was identified. This metabolite has not previously been observed in man.

Original languageEnglish (US)
Pages (from-to)198-207
Number of pages10
JournalBiological Mass Spectrometry
Volume5
Issue number3
DOIs
StatePublished - Mar 1978
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine

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