Fatal multiple acyl-CoA dehydrogenase deficiency caused by ETFDH gene mutation:A case report  

作　　者：Xue-Xia Li Xiao-Nan Yang Hu-Dan Pan Liang Liu 

机构地区：[1]State Key Laboratory of Quality Research in Chinese Medicine,Macao University of Science and Technology,Macao 999078,China [2]State Key Laboratory of Traditional Chinese Medicine Syndrome,The Second Affiliated Hospital of Guangzhou University of Chinese Medicine,Guangzhou 510006,Guangdong Province,China

出　　处：《World Journal of Clinical Cases》2024年第23期5422-5430,共9页世界临床病例杂志

摘　　要：BACKGROUND Multiple acyl-CoA dehydrogenase deficiency(MADD)is a disease of rare autosomal recessive disorder.There are three types of MADD.Type I is a neonatalonset form with congenital anomalies.Type II is a neonatal-onset form without congenital anomalies.Type III is considered to a milder form and usually responds to riboflavin.However,late-onset form could also be fatal and not responsive to treatments.CASE SUMMARY We report a severe case of a young man with onset type III MADD induced by drugs and strenuous exercise characterized by rhabdomyolysis and liver dysfunction.Urine analysis indicated 12 out of 70 kinds of organic acids like glutaric acid-2 were detected.Serum analysis in genetic metabolic diseases revealed 24 out of 43 tested items were abnormal,revealing the elevation of several acylcarnitines and the reduction of carnitine in the patient.By next generation sequencing technology for gene sequencing related to fatty acid oxidation and carnitine cycle defects,a rare ETFDH gene variant was identified:NM_004453:4:C.1448C>T(p.Pro483 Leu).The patient was diagnosed with lateonset GAII.He was not responsive to riboflavin and progressively worsened into multiple organ failure that finally led to death.CONCLUSION Type III MADD can also be fatal and not responsive to treatments.

关 键 词：Electron transfer flavoprotein dehydrogenase mutation Multiple acyl-CoA dehydrogenase deficiency Multiple organ failure Case report 

分 类 号：R596[医药卫生—内科学]