Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive inborn error of metabolism. The late-onset MADD is frequently caused by mutations in ETFDH gene. Due to its clinical heterogeneity, diagnosis and treatment of late-onset MADD are often delayed. The authors described a previously healthy 40-year-old Thai female presenting with subacute severe weakness of bulbar-limb muscles and elevated serum CK. The authors emphasized the importance of needle EMG and prompt muscle histopathological evaluation, which rapidly led to the diagnosis and riboflavin therapy, resulting in a dramatic and rapid improvement before genetic study disclosed mutation in ETFDH gene.
1Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
2Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
3King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok, Thailand.
Corresponding author: Nath Pasutharnchat, MD Address: Division of Neurology, Bhumisiri Building, floor 7 zone c, King Chulalongkorn Memorial Hospital, Bangkok, Thailand 10330. Email: firstname.lastname@example.org
No competing interests
No funding has been received for the conduct of this study and preparation of this manuscript
No financial benefits to the authors
Previous presentation for poster session at: 17th Asian and Oceanian Myology Center Meeting(AOMC), July 27 – July 29, 2018 Kuala Lumper, Malaysia