Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder

M. J. Bennett, R. J. Pollitt, S. I. Goodman, D. E. Hale, J. Vamecq

Research output: Contribution to journalArticle

37 Scopus citations

Abstract

Investigation of cultured skin fibroblasts in a patient with atypical riboflavin-responsive glutaric acidura revealed a marked deficiency of peroxisomal glutaryl-CoA oxidase. This is the first patient to be reported with glutaric aciduria caused by a peroxisomal rather than a mitochondrial dysfunction. This enzyme appears to be specific for glutaryl-CoA, as lauryl-CoA and dodecanedioyl-CoA oxidase activities in the fibroblasts were both normal. The urinary excretion of glutaric acid (0.5 mmol mmol creatinine-1) suggests that the flux through this pathway is considerably less than the mitochondrial flux through glutaryl-CoA dehydrogenase. The elevated glutaric acid excretion (to 0.8 mmol mmol creatinine-1) in response to lysine loading suggests that lysine is a precursor.

Original languageEnglish (US)
Pages (from-to)165-173
Number of pages9
JournalJournal of Inherited Metabolic Disease
Volume14
Issue number2
DOIs
StatePublished - Mar 1991
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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