A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy |
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| Authors: | S Yano L Sweetman D R Thorburn S Mofidi J C Williams |
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| Institution: | (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;(2) Division of Medical Genetics, Department of Pediatrics, Childrens Hospital Los Angeles , California, U.S.A., US;(3) The Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia, AU |
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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.
Received: 12 April 1996 / Accepted: 24 September 1996 |
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| Keywords: | Malonyl coenzyme A decarboxylase deficiency Cardiomyopathy Inborn errors of metabolism |
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