Journal
MOLECULAR GENETICS AND METABOLISM
Volume 73, Issue 3, Pages 276-279Publisher
ACADEMIC PRESS INC
DOI: 10.1006/mgme.2001.3196
Keywords
malonyl-CoA decarboxylase; malonic aciduria; carnitine palmitoyltransferase 1; fatty acid oxidation; intermediary metabolism
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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. (C) 2001 Academic Press.
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