scholarly journals Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

2018 ◽  
Vol 6 ◽  
pp. 232640981879736
Author(s):  
Jörn Oliver Sass ◽  
Malkanthi Fernando ◽  
Sidney Behringer
Keyword(s):  
Coenzyme A ◽  
Lyase Deficiency

Corticospinal Tract Involvement in a Patient With 3-HMG Coenzyme A Lyase Deficiency

2006 ◽  
Vol 35 (2) ◽  
pp. 139-141 ◽  
Author(s):  
Yüksel Yýlmaz ◽  
Nihal Özdemir ◽  
Gazanfer Ekinci ◽  
Tolunay Baykal ◽  
Canan Kocaman
Keyword(s):  
Corticospinal Tract ◽  
Coenzyme A ◽  
Lyase Deficiency ◽  
Tract Involvement

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: A review

1986 ◽  
Vol 9 (3) ◽  
pp. 225-233 ◽  
Author(s):  
S. J. Wysocki ◽  
R. Hähnel
Keyword(s):  
Coenzyme A ◽  
Lyase Deficiency

3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: Report of five new patients

1988 ◽  
Vol 11 (1) ◽  
pp. 76-87 ◽  
Author(s):  
K. M. Gibson ◽  
J. Breuer ◽  
K. Kaiser ◽  
W. L. Nyhan ◽  
E. E. McCoy ◽  
...  
Keyword(s):  
Coenzyme A ◽  
Lyase Deficiency

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

1989 ◽  
Vol 12 (3) ◽  
pp. 341-342 ◽  
Author(s):  
S. W. Moses ◽  
M. Aviram ◽  
R. Geiger ◽  
R. Berger ◽  
P. C. Smit
Keyword(s):  
Coenzyme A ◽  
Lyase Deficiency

A Rare Cause of Hepatomegaly: 3-Hydroxy-3-Methylglutaryl Coenzyme-A Lyase Deficiency

2001 ◽  
Vol 33 (3) ◽  
pp. 339-341 ◽  
Author(s):  
Nafiye Urganç ◽  
Müjde Arapoğlu ◽  
Merih Evrüke ◽  
Ahmet Aydin
Keyword(s):  
Coenzyme A ◽  
Lyase Deficiency

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

2009 ◽  
Vol 2009 ◽  
pp. 1-3 ◽  
Author(s):  
Alexander A. C. Leung ◽  
Alicia K. Chan ◽  
Justin A. Ezekowitz ◽  
Alexander K. C. Leung
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Inborn Error ◽  
Coenzyme A ◽  
Inborn Error Of Metabolism ◽  
Acute Presentation ◽  
Lyase Deficiency ◽  
First Case ◽  
Fatal Arrhythmia ◽  
Leucine Catabolism

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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