S. Yano et al., A NEW CASE OF MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY PRESENTING WITH CARDIOMYOPATHY, European journal of pediatrics, 156(5), 1997, pp. 382-383
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.