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

S. Yano, L. Sweetman, D. R. Thorburn, S. Mofidi, J. C. Williams

Research output: Contribution to journalArticlepeer-review

40 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)382-383
Number of pages2
JournalEuropean Journal of Pediatrics
Volume156
Issue number5
DOIs
StatePublished - 1997
Externally publishedYes

Keywords

  • cardiomyopathy
  • inborn errors of metabolism
  • malonyl coenzyme A decarboxylase deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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