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.

Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism

2019 ◽  
Vol 56 (1) ◽  
pp. e5-e8 ◽  
Author(s):  
Erin E. Bennett ◽  
Kevin Hummel ◽  
Andrew G. Smith ◽  
Nicola Longo
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Acute Presentation

Another Day, Another GI Bug

2020 ◽  
pp. 111-122
Author(s):  
Pinaki Mukherji ◽  
Dana Libov
Keyword(s):  
Emergency Department ◽  
High Risk ◽  
Inborn Error ◽  
Final Diagnosis ◽  
Emergency Department Visits ◽  
Inborn Error Of Metabolism ◽  
First Case ◽  
Non Accidental Trauma ◽  
Abnormal Radiograph ◽  
Electrolyte Abnormalities

This chapter presents 3 cases of vomiting in children and explores less common diagnoses not to be missed by the astute clinician. The first case of a child with recurrent progressive vomiting has unusual lab abnormalities which leads to the final diagnosis of an inborn error of metabolism. The second case presents a child with several Emergency Department visits for vomiting and a skin finding leads to a final diagnosis of non-accidental trauma. The final case reviews a vomiting child with electrolyte abnormalities and an abnormal radiograph, leading to a diagnosis of malrotation with volvulus. Each case gives the clinician key pearls to distinguish these high risk cases from everyday gastroenteritis.

First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
CuiLi Liang ◽  
MinYan Jiang ◽  
HuiYing Sheng ◽  
YanNa Cai ◽  
DongYan Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
First Case ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A

AbstractMedium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the

Myocardial Blood Flow Response to Pacing Tachycardia and to Dipyridamole Infusion in Patients With Dilated Cardiomyopathy Without Overt Heart Failure

Circulation ◽  
1995 ◽  
Vol 92 (4) ◽  
pp. 796-804 ◽  
Author(s):  
Danilo Neglia ◽  
Oberdan Parodi ◽  
Michela Gallopin ◽  
Gianmario Sambuceti ◽  
Assuero Giorgetti ◽  
...  
Keyword(s):  
Heart Failure ◽  
Blood Flow ◽  
Myocardial Blood Flow ◽  
Dilated Cardiomyopathy ◽  
Blood Flow Response ◽  
Flow Response
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