A NEW CASE OF MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY PRESENTING WITH CARDIOMYOPATHY

A new case of mitochondrial malonyl coenzyme A decarboxylase deficienc y is described. The patient presented with an initial episode of metab olic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of ag e for developmental delay revealed a prominent elevation of malonic ac id in urine. Malonyl carnitine was also elevated. The activity of malo nyl CoA decarboxylase in cultured fibroblasts was 7% of normal. Conclu sion Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.