A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy
S Yano1, L Sweetman, D R Thorburn
1Division of Medical Genetics, Childrens Hospital Los Angeles 90027, USA.
Unlabelled:
A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of Malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal.
Conclusion:
Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.
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