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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Автори:	Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang
Формат:	Artigo
Мова:	Inglês
Опубліковано:	BMC 2020-05-01
Серія:	BMC Medical Genetics
Предмети:	Glutaric acidemia type II Multiple acyl-CoA dehydrogenase deficiency ETFDH Neonatal-onset
Онлайн доступ:	http://link.springer.com/article/10.1186/s12881-020-00995-2
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