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Hindawi, Case Reports in Medicine, (2009), p. 1-3, 2009

DOI: 10.1155/2009/183125

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A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency

Journal article published in 2009 by Alexander A. C. Leung ORCID, Alicia K. Chan, Justin A. Ezekowitz, Alexander K. C. Leung
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency is an inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in an organic acidopathy. In 1994, a case of dilated cardiomyopathy and fatal arrhythmia was reported in a 7-month-old infant. We report a case of dilated cardiomyopathy in association with HMG CoA lyase deficiency in a 23-year-old man with the acute presentation of heart failure. To our knowledge, this is the first case reported in an adult.