Article
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
BMC medical genetics - 11 May 2020
Ou Mingcai, Zhu Lin, Zhang Yong, Zhang Yaguo, Zhou Jingyao, Zhang Yu, Chen Xuelian, Yang Lijuan, Li Ting, Su Xingyue, Hu Qi, Wang Wenjun
Abstract excerpt
BACKGROUND: Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-subunit, ETFA, electron transfer flavoprotein β-subunit, ETFB and electron transfer flavoprotein dehydrogenase, ETFDH....
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