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 language | English (US) |
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Pages (from-to) | 276-279 |
Number of pages | 4 |
Journal | Molecular genetics and metabolism |
Volume | 73 |
Issue number | 3 |
DOIs | |
State | Published - 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