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Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disease caused by a defect in electron transfer flavoprotein alpha (ETFA), ETF beta (ETFB), or ETF dehydrogenase (ETFDH), and riboflavin metabolism disorders have recently been reported to present as mimicking MADD. MADD is...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Ryosuke Bo, Yuichi Mushimoto, Yuki Hasegawa, Seiji Yamaguchi, Takeshi Taketani
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2022-12-01
Schriftenreihe:Molecular Genetics and Metabolism Reports
Schlagworte:
Glutaric acidemia type II (GA2)
Adult onset
Myopathy
Common variant
Riboflavin
Bezafibrate
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2214426922001008
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