Malonyl coenzyme a decarboxylase deficiency: Early dietary restriction and time course of cardiomyopathy

Carlos E. Prada, John L. Jefferies, Michelle A. Grenier, Christina M. Huth, Kimberley I. Page, Robert L. Spicer, Jeffrey A. Towbin, Nancy D. Leslie

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Malonyl coenzyme A (CoA) decarboxylase (MCD) deficiency is a rare autosomal recessive organic acidemia characterized by varying degrees of organ involvement and severity. MCD regulates fatty acid biosynthesis and converts malonyl-CoA to acetyl-CoA. Cardiomyopathy is 1 of the leading causes of morbidity and mortality in this disorder. It is unknown if diet alone prevents cardiomyopathy development based in published literature. We report a 10-month-old infant girl identified by newborn screening and confirmed MCD deficiency with a novel homozygous MLYCD mutation. She had normal echocardiogram measurements before transition to high medium-chain triglycerides and low long-chain triglycerides diet. Left ventricular noncompaction development was not prevented by dietary interventions. Further restriction of long-chain triglycerides and medium-chain triglycerides supplementation in combination with angiotensin-converting enzyme inhibitors helped to improve echocardiogram findings. Patient remained asymptomatic, with normal development and growth. Our case emphasizes the need for ongoing cardiac disease screening in patients with MCD deficiency and the benefits and limitations of current dietary interventions.

Original languageEnglish (US)
Pages (from-to)e456-e460
Issue number2
StatePublished - Aug 2012
Externally publishedYes


  • Angiotensin-converting enzyme
  • Left ventricular noncompaction
  • Malonic acid
  • Malonyl carnitine
  • Malonyl-CoA decarboxylase deficiency
  • Medium-chain triglycerides
  • Newborn screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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