Eur J Pediatr. 1997 May;156(5):382-3.

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

Yano S, Sweetman L, Thorburn DR, Mofidi S, Williams JC.

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Division of Medical Genetics, Childrens Hospital Los Angeles 90027, USA.

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.

PMID:: 9177981; [PubMed - indexed for MEDLINE]

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

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