A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.
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.


CONCLUSIONS
Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.
Yano
S
S
Division of Medical Genetics, Childrens Hospital Los Angeles 90027, USA.
Sweetman
L
L
Thorburn
D R
DR
Mofidi
S
S
Williams
J C
JC
D000138:Acidosis / Q000209:etiology; D002262:Carboxy-Lyases / Q000172:deficiency*; D009202:Cardiomyopathies / Q000201:enzymology* / Q000209:etiology / Q000652:urine; D002658:Developmental Disabilities / Q000209:etiology / Q000652:urine; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000652:urine; D008297:Male; D008316:Malonyl Coenzyme A / Q000172:deficiency*; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000175:diagnosis / Q000652:urine
D008316:Malonyl Coenzyme A; D002262:Carboxy-Lyases