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

Abstract

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.

• Authors: S Yano, L Sweetman, D R Thorburn, S Mofidi, J C Williams
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 156 Issue 5 Pg. 382-3 (May 1997) ISSN: 0340-6199 [Print] Germany
• PMID: 9177981 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Malonyl Coenzyme A
• Carboxy-Lyases

Topics

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