A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency. (4th November 2009)

• Record Type: Journal Article
• Authors: Leung, Alexander A. C.; Chan, Alicia K.; Ezekowitz, Justin A.; Leung, Alexander K. C.
• Other Names: Meégarbaneé André Academic Editor.
• Is Part Of: Case reports in medicine. Volume 2009(2009)
• Publication Date: 2009-11-04
• Subjects: Medicine -- Periodicals; Medicine -- Periodicals; Medicine; Case Reports; Periodicals; 610
• DOI: 10.1155/2009/183125
• Languages: English
• ISSNs: 1687-9627

Abstract

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.