Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy : a case report

• Main Authors: Goh, Liuh Ling, Lee, Yingshan, Tan, Ee Shien, Lim, James Soon Chuan, Lim, Chia Wei, Dalan, Rinkoo
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2018
• Subjects: ETFDH; Lipid Storage Myopathy
• Online Access: https://hdl.handle.net/10356/86185; http://hdl.handle.net/10220/45251
• Institution: Nanyang Technological University

Background: Lipid storage myopathy (LSM) is a diverse group of lipid metabolic disorders with great variations in the clinical phenotype and age of onset. Classical multiple acyl-CoA dehydrogenase deficiency (MADD) is known to occur secondary to mutations in electron transfer flavoprotein dehydrogen...