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

Eur J Pediatr. 1997 May;156(5):382-3. doi: 10.1007/s004310050619.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis / etiology
  • Carboxy-Lyases / deficiency*
  • Cardiomyopathies / enzymology*
  • Cardiomyopathies / etiology
  • Cardiomyopathies / urine
  • Developmental Disabilities / etiology
  • Developmental Disabilities / urine
  • Humans
  • Infant
  • Lipid Metabolism, Inborn Errors / complications*
  • Lipid Metabolism, Inborn Errors / urine
  • Male
  • Malonyl Coenzyme A / deficiency*
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / urine


  • Malonyl Coenzyme A
  • Carboxy-Lyases