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

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

Abstract 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 de...

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Bibliographic Details
Main Authors: Liuh Ling Goh, Yingshan Lee, Ee Shien Tan, James Soon Chuan Lim, Chia Wei Lim, Rinkoo Dalan
Format: Article
Language:English
Published: BMC 2018-04-01
Series:BMC Medical Genomics
Subjects:
ETFDH
Lipid storage myopathy
Multiple acyl-CoA dehydrogenase deficiency
Whole exome sequencing
Online Access:http://link.springer.com/article/10.1186/s12920-018-0356-8

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