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

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....

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Detalles Bibliográficos
Autores principales: Leung, Alexander A. C., Chan, Alicia K., Ezekowitz, Justin A., Leung, Alexander K. C.
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773375/
https://www.ncbi.nlm.nih.gov/pubmed/19893767
http://dx.doi.org/10.1155/2009/183125
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author Leung, Alexander A. C.
Chan, Alicia K.
Ezekowitz, Justin A.
Leung, Alexander K. C.
author_facet Leung, Alexander A. C.
Chan, Alicia K.
Ezekowitz, Justin A.
Leung, Alexander K. C.
author_sort Leung, Alexander A. C.
collection PubMed
description 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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spelling pubmed-27733752009-11-05 A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency Leung, Alexander A. C. Chan, Alicia K. Ezekowitz, Justin A. Leung, Alexander K. C. Case Rep Med Case Report 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. Hindawi Publishing Corporation 2009 2009-11-04 /pmc/articles/PMC2773375/ /pubmed/19893767 http://dx.doi.org/10.1155/2009/183125 Text en Copyright © 2009 Alexander A. C. Leung et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
Leung, Alexander A. C.
Chan, Alicia K.
Ezekowitz, Justin A.
Leung, Alexander K. C.
A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency
title A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency
title_full A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency
title_fullStr A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency
title_full_unstemmed A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency
title_short A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency
title_sort case of dilated cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-coenzyme a (hmg coa) lyase deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773375/
https://www.ncbi.nlm.nih.gov/pubmed/19893767
http://dx.doi.org/10.1155/2009/183125
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