Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Abstract Background Deficiency of electron transfer flavoprotein dehydrogenase (ETFDH) is associated with multiple acyl-CoA dehydrogenase deficiency (MADD). This disorder is an autosomal recessive lipid storage myopathy (LSM) that exhibits a wide range of clinical features, including myopathy, weakn...

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Bibliographic Details
Main Authors: Sara Missaglia, Daniela Tavian, Laura Moro, Corrado Angelini
Format: Article
Language:English
Published: BMC 2018-11-01
Series:Lipids in Health and Disease
Subjects:
Multiple acyl-CoA dehydrogenase disorder
Lipid storage myopathy
ETFDH
Carnitine
Riboflavin
Online Access:http://link.springer.com/article/10.1186/s12944-018-0903-5

Internet

http://link.springer.com/article/10.1186/s12944-018-0903-5

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