Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency  

作　　者：Hai-Zhu Chen Ming Jin Nai-Qing Cai Xiao-Dan Lin Xin-Yi Liu Liu-Qing Xu Min-Ting Lin Feng Lin Ning Wang Zhi-Qiang Wang Guo-Rong Xu 

机构地区：[1]Department of Neurology and Institute of Neurology,The First Affiliated Hospital of Fujian Medical University,Fuzhou,Fujian 350005,China [2]Fujian Key Laboratory of Molecular Neurology,Fuzhou,Fujian 350005,China

出　　处：《Chinese Medical Journal》2019年第13期1615-1618,共4页中华医学杂志（英文版）

基　　金：grants from National Natural Science Foundation of China(U1505222,81271254,Beijing).

摘　　要：To the Editor:Late-onset multiple acyl-CoA dehydrogenase deficiency(MADD)is clinically characterized by a fluctuating or progressive proximal myopathy,exercise intolerance but good responsive to riboflavin.ETFDH mutations are a major cause of late-onset MADD.We analyzed the clinical course,biochemical studies,and muscle magnetic resonance imaging(MRI)and pathologies of two late-onset MADD adult male patients who were misdiagnosed as polymyositis and presented with serious clinical symptoms of rhabdomyolysis and respiratory insufficient after using large dosage of intravenous glucocorticoids.Our current report broadens the clinical phenotypes spectrum of MADD and reminds clinicians to be cautious about using large dosage glucocorticoids in metabolic compromised patients.

关 键 词：RHABDOMYOLYSIS respiratory INSUFFICIENCY DOSAGE of INTRAVENOUS 

分 类 号：R[医药卫生]