scholarly journals Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review

2013 ◽  
Vol 28 (5) ◽  
pp. 354-356 ◽  
Author(s):  
Sharef Waadallah Sharef ◽  
Khalfan Al-Senaidi ◽  
Surendra Nath Joshi
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Successful Treatment ◽  
Dehydrogenase Deficiency ◽  
First Case ◽  
Chain Acyl ◽  
Long Chain

scholarly journals First case report of short-chain acyl-CoA dehydrogenase deficiency in China

2013 ◽  
Vol 2013 (Suppl 1) ◽  
pp. P181
Author(s):  
MinYan Jiang ◽  
Li Liu ◽  
MinZhi Peng ◽  
CuiLi Liang ◽  
HuiYing Sheng ◽  
...  
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
First Case ◽  
Chain Acyl

scholarly journals Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report

2019 ◽  
Vol 10 ◽  
Author(s):  
Alba M. Herrera-Olivares ◽  
Jose A. Fernández-Luque ◽  
Carmen Paradas ◽  
Alejandro Lucia ◽  
Alfredo Santalla
Keyword(s):  
Case Report ◽  
Resistance Training ◽  
Dehydrogenase Deficiency ◽  
Chain Acyl ◽  
Long Chain

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

scholarly journals First case report of short-chain acyl-CoA dehydrogenase deficiency in China

2012 ◽  
Vol 25 (7-8) ◽  
Author(s):  
MinYan Jiang ◽  
Li Liu ◽  
MinZhi Peng ◽  
CuiLi Liang ◽  
HuiYing Sheng ◽  
...  
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
First Case ◽  
Chain Acyl

Very Long Chain Acyl-CoA Dehydrogenase Deficiency: Successful Treatment of Acute Cardiomyopathy

1996 ◽  
Vol 58 (1) ◽  
pp. 59-65 ◽  
Author(s):  
Mary Carole Brown-Harrison ◽  
Mohamed A. Nada ◽  
Howard Sprecher ◽  
Christine Vianey-Saban ◽  
John Farquhar, Jr. ◽  
...  
Keyword(s):  
Successful Treatment ◽  
Dehydrogenase Deficiency ◽  
Chain Acyl ◽  
Long Chain

scholarly journals VERY LONG‐CHAIN ACYL‐COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2‐DAY‐OLD INFANT

2020 ◽  
Vol 56 (12) ◽  
pp. 1996-1997
Author(s):  
Sharmila Kiss ◽  
Kai M Hong ◽  
Joel Sadowsky ◽  
Ronda F Greaves ◽  
Joy Yaplito‐Lee
Keyword(s):  
Case Report ◽  
Dehydrogenase Deficiency ◽  
Chain Acyl ◽  
Long Chain

Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report

2018 ◽  
Vol 28 (3) ◽  
pp. 296-297
Author(s):  
Aaron S. Hess ◽  
Gregory M. Rice ◽  
John D. Jochman ◽  
Bridget L. Muldowney
Keyword(s):  
Case Report ◽  
Pediatric Patient ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Volatile Anesthesia ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Long Chain

scholarly journals Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Maheshi Wijayabandara ◽  
Champika Gamakaranage ◽  
Dineshani Hettiarachchi
Keyword(s):  
Dehydrogenase Deficiency ◽  
Molecular Genetic ◽  
Kidney Injury ◽  
Acid Oxidation ◽  
Sri Lankan ◽  
First Case ◽  
Successful Recovery ◽  
Creatine Phosphokinase Level ◽  
Chain Acyl ◽  
Long Chain

Background. Rhabdomyolysis can be either inherited or acquired such as in metabolic myopathies. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare fatty acid oxidation disorder which presents with different phenotypes, and the mild adult form can present as intermittent rhabdomyolysis. Here, we present the first adult case of very-long-chain acyl-CoA dehydrogenase deficiency presenting as rhabdomyolysis in a Sri Lankan patient. Case Presentation. A 36-year-old Sri Lankan man who was born to consanguineous parents presented with severe generalized muscle pain, stiffness, and dark-coloured urine for three days following prolonged low-intensity activity. Since fourteen years of age, he has had multiple similar episodes, where one episode was complicated with acute kidney injury. His eldest brother also suffered from the similar episode. Examination revealed only generalized muscle tenderness without any weakness. His creatine phosphokinase level was above 50,000 IU/L, and he had myoglobinuria. Molecular genetic tests confirmed the diagnosis of very-long-chain acyl-CoA dehydrogenase deficiency. Following a successful recovery devoid of complications, he remained asymptomatic with lifestyle adjustments. Conclusion. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare inherited cause of metabolic myopathy that gives rise to intermittent rhabdomyolysis in adults. Prompt diagnosis is essential to prevent complications and prevent its recurrence.

Sign in / Sign up

Export Citation Format

Share Document