malonyl-coenzyme-a and Developmental-Disabilities

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.. Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.

Topics: Acidosis; Carboxy-Lyases; Cardiomyopathies; Developmental Disabilities; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Malonyl Coenzyme A; Mitochondrial Myopathies