Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency

Michael J. Bennett, Pamela A. Harthcock, Richard L. Boriack, Jonathan C. Cohen

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Malonyl-CoA decarboxylase deficiency is a rare inborn error of metabolism. It has been suggested but never demonstrated that many of the clinical features arise due to inhibition of mitochondrial fatty acid oxidation by accumulated malonyl-CoA. We studied the oxidation of fatty acids in cultured skin fibroblasts from a recently described patient with malonyl-CoA decarboxylase deficiency. There was a marked reduction in the oxidation of palmitic and myristic acids both under baseline conditions and when the cells were cultured in the presence of high concentrations of acetate, a malonyl-CoA precursor. These results suggest that there is inhibition of fatty acid oxidation in malonyl-CoA decarboxylase deficiency and that this inhibition may be related to some of the clinical phenotypes.

Original languageEnglish (US)
Pages (from-to)276-279
Number of pages4
JournalMolecular Genetics and Metabolism
Volume73
Issue number3
DOIs
StatePublished - Jan 1 2001

Keywords

  • Carnitine palmitoyltransferase 1
  • Fatty acid oxidation
  • Intermediary metabolism
  • Malonic aciduria
  • Malonyl-CoA decarboxylase

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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