Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran

2020 ◽  
Vol 411 ◽  
pp. 116707 ◽  
Author(s):  
Yalda Nilipour ◽  
Farzad Fatehi ◽  
Saleheh Sanatinia ◽  
Anna Bradshaw ◽  
Jennifer Duff ◽  
...  
Keyword(s):  
Founder Effect ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Lipid Storage ◽  
Lipid Storage Myopathy ◽  
Acyl Coenzyme A

Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency

2015 ◽  
Vol 52 (2) ◽  
pp. 289-293 ◽  
Author(s):  
Charles H. Whitaker ◽  
Kevin J. Felice ◽  
David Silvers ◽  
Qian Wu
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Lipid Storage ◽  
Lipid Storage Myopathy ◽  
Acyl Coenzyme A

A fatal neonatal case of medium-chain acyl-coenzyme a dehydrogenase deficiency with homozygous A→G985 transition

1992 ◽  
Vol 121 (6) ◽  
pp. 965-968 ◽  
Author(s):  
Kin-Chuen Leung ◽  
Judith W. Hammond ◽  
Shilpi Chabra ◽  
Kevin H. Carpenter ◽  
Mary Potter ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome

1993 ◽  
Vol 122 (5) ◽  
pp. 715-718 ◽  
Author(s):  
Raanan Arens ◽  
David Gozal ◽  
Karen Jain ◽  
Shamshad Muscati ◽  
Eva T. Heuser ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with a Lipid-Storage Myopathy and Secondary Carnitine Deficiency

1984 ◽  
Vol 311 (19) ◽  
pp. 1232-1236 ◽  
Author(s):  
Douglass M. Turnbull ◽  
Kim Bartlett ◽  
David L. Stevens ◽  
K. George M. M. Alberti ◽  
G. John Gibson ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Short Chain ◽  
Lipid Storage Myopathy ◽  
Chain Acyl

Familial Reye-Like Syndrome: A Presentation of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

PEDIATRICS ◽  
1987 ◽  
Vol 79 (3) ◽  
pp. 382-385
Author(s):  
Bruce Taubman ◽  
Daniel E. Hale ◽  
Richard I. Kelley
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Term Therapy ◽  
Reye Syndrome ◽  
Medium Chain ◽  
Chain Acyl ◽  
History Of ◽  
Acyl Coenzyme A ◽  
Long Term Therapy

A 20-month-old girl with a family history of two siblings who died of an encephalopathy diagnosed as Reye syndrome presented to an emergency room in hypoglycemic coma and was found to have medium-chain acyl-coenzyme A dehydrogenase deficiency. The salient clinical and biochemical features of this newly described inborn error of fatty acid metabolism are described and contrasted to those of classical Reye syndrome. Important clues that should lead the clinician to suspect this disorder, methods of diagnosis, and appropriate acute and long-term therapy are also discussed.

scholarly journals Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Yiming Zheng ◽  
Yawen Zhao ◽  
Wei Zhang ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Elderly Patient ◽  
Muscle Weakness ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Lipid Storage ◽  
Exercise Intolerance ◽  
Lipid Storage Myopathy ◽  
Case Presentation ◽  
Acylcarnitine Profile ◽  
Progressive Weakness

Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis. Case presentation An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient’s serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and long-chain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness. Conclusions MADD should be considered when evaluating elderly patients with subacute muscle weakness.

Lipid Storage Myopathy in Multiple Acyl-CoA Dehydrogenase Deficiency: An Adult Case

1992 ◽  
Vol 32 (3) ◽  
pp. 170-176 ◽  
Author(s):  
T. Mongini ◽  
C. Doriguzzi ◽  
L. Palmucci ◽  
A. De Francesco ◽  
L. Bet ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Lipid Storage ◽  
Adult Case ◽  
Lipid Storage Myopathy
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