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Case Reports in Medicine
Volume 2009, Article ID 183125, 3 pages
Case Report

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

1Department of Medicine, University of Alberta Hospital, University of Alberta, Edmonton, AB, Canada T6G 2B7
2Department of Medical Genetics, University of Alberta/Stollery Children's Hospital, University of Alberta, Edmonton, AB, Canada T6G 2B7
3Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada T2M 0H5

Received 25 June 2009; Accepted 29 September 2009

Academic Editor: André Meégarbaneé

Copyright © 2009 Alexander A. C. Leung et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.