A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency-Reference-Cited by-同舟云学术

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

Published:2009 Issue: Volume:2009 Page:1-3
ISSN:1687-9627
Container-title:Case Reports in Medicine
language:en
Short-container-title:Case Reports in Medicine

Author:

Leung Alexander A. C.¹,Chan Alicia K.²,Ezekowitz Justin A.¹,Leung Alexander K. C.³

Affiliation:

1. Department of Medicine, University of Alberta Hospital, University of Alberta, Edmonton, AB, Canada T6G 2B7

2. Department of Medical Genetics, University of Alberta/Stollery Children's Hospital, University of Alberta, Edmonton, AB, Canada T6G 2B7

3. Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada T2M 0H5

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.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crim/2009/183125.pdf

Reference7 articles.

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