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

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.

• Authors: L Sweetman, W Weyler, W L Nyhan, C de Céspedes, A R Loria, Y Estrada
• Journal: Biomedical mass spectrometry (Biomed Mass Spectrom) Vol. 5 Issue 3 Pg. 198-207 (Mar 1978) ISSN: 0306-042X [Print] England
• PMID: 630060 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Acetoacetates
• Hydroxy Acids
• Hydroxybutyrates
• Keto Acids
• Pentanoic Acids
• Propionates
• Isoleucine
• 2-methyl-3-hydroxybutyric acid
• 2-methylbutyrylglycine
• Carboxy-Lyases
• Glycine

Topics

• Acetoacetates (urine)
• Carboxy-Lyases (deficiency)
• Child, Preschool
• Consanguinity
• Female
• Glycine (analogs & derivatives, urine)
• Humans
• Hydroxy Acids (urine)
• Hydroxybutyrates (urine)
• Isoleucine (metabolism)
• Keto Acids (urine)
• Pentanoic Acids (urine)
• Propionates (blood)