Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

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

Abstract

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.

This is a preview of subscription content, log in to check access.

Author information

Additional information

Received: 12 April 1996 / Accepted: 24 September 1996

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Yano, S., Sweetman, L., Thorburn, D. et al. A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. Eur J Pediatr 156, 382–383 (1997). https://doi.org/10.1007/s004310050619

Download citation

  • Key words Malonyl coenzyme A decarboxylase deficiency 
  •  Cardiomyopathy 
  •  Inborn errors of metabolism