title: A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency.
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.
authors.affiliation: Department of Medicine, University of Alberta Hospital, University of Alberta, Edmonton, AB, Canada T6G 2B7.
authors.forename: Alexander A C
authors.initials: AA
authors.lastname: Leung
authors.forename: Alicia K
authors.initials: AK
authors.lastname: Chan
authors.forename: Justin A
authors.initials: JA
authors.lastname: Ezekowitz
authors.forename: Alexander K C
authors.initials: AK
authors.lastname: Leung