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

Case Reports in Medicine - Tập 2009 - Trang 1-3 - 2009
Alexander A. C. Leung1, Alicia K.J. Chan2, Justin A. Ezekowitz1, Alexander K. C. Leung3
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

Tóm tắt

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.

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Tài liệu tham khảo

10.1007/s10545-009-1048-5

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Case Reports in Medicine

Tập 2009

1-3

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