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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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Uloženo v:
Hlavní autoři: Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu, Wenjun Wang
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2020-05-01
Edice:BMC Medical Genetics
Témata:
Glutaric acidemia type II
Multiple acyl-CoA dehydrogenase deficiency
ETFDH
Neonatal-onset
On-line přístup:http://link.springer.com/article/10.1186/s12881-020-00995-2
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