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

• Published in: Chinese medical journal 2019-07, Vol.132 (13), p.1615-1618
• Main Authors: Chen, Hai-Zhu, Jin, Ming, Cai, Nai-Qing, Lin, Xiao-Dan, Liu, Xin-Yi, Xu, Liu-Qing, Lin, Min-Ting, Lin, Feng, Wang, Ning, Wang, Zhi-Qiang, Xu, Guo-Rong
• Format: Article
• Language: English
• Subjects: Abdomen; Adenosine triphosphatase; Correspondence; Dehydrogenases; Dysphagia; Edema; Electron-Transferring Flavoproteins - genetics; Histopathology; Humans; Iron-Sulfur Proteins - genetics; Kinases; Magnetic resonance imaging; Male; Metabolism; Middle Aged; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - physiopathology; Mutation; Mutation - genetics; Oxidoreductases Acting on CH-NH Group Donors - genetics; Patients; Plasma; Respiratory Insufficiency - genetics; Rhabdomyolysis; Rhabdomyolysis - genetics; Rhabdomyolysis - physiopathology; Ultrasonic imaging; Vitamin B; Vomiting
• ISSN: 0366-6999; 2542-5641
• DOI: 10.1097/CM9.0000000000000288

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. MADD (OMIM 231680) is an autosomal recessive inborn error of fatty acids, amino acids, and choline metabolic disturbance. Blood gas analysis revealed that PO2 was 56.0 mmHg, PaCO2 was 19.3 mmHg, and pH was 7.263. [...]3 L/min oxygen inhalation with a facemask was used to improve the level of oxygen saturation. See PDF] Genetic analysis and Western blot analysis The Patient 1 was harbored a homozygous mutation of c.250G>A (p.A84T) in exon 3 of ETFDH.