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

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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.

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Authors and Affiliations

  1. Division of Medical Genetics, MS #90, Childrens Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, California 90027, USA. Tel.: 213-669-2178, Fax: 213-665-5937, , , , , , US

    S. Yano, L. Sweetman & J. C. Williams

  2. Division of Medical Genetics, Department of Pediatrics, Childrens Hospital Los Angeles , California, U.S.A., , , , , , US

    S. Mofidi

  3. The Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia, , , , , , AU

    D. R. Thorburn

Authors
  1. S. Yano
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  2. L. Sweetman
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  3. D. R. Thorburn
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  4. S. Mofidi
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  5. J. C. Williams
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Received: 12 April 1996 / Accepted: 24 September 1996

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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

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  • DOI: https://doi.org/10.1007/s004310050619

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