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

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

Abstract 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 a...

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Bibliografiske detaljer
Main Authors: Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang
Format: Article
Sprog:English
Udgivet: BMC 2020-05-01
Serier:BMC Medical Genetics
Fag:
Glutaric acidemia type II
Multiple acyl-CoA dehydrogenase deficiency
ETFDH
Neonatal-onset
Online adgang:http://link.springer.com/article/10.1186/s12881-020-00995-2

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http://link.springer.com/article/10.1186/s12881-020-00995-2

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