A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

被引：7

作者：

Chen, Min ^{[1
]}

Peng, Jing ^{[1
]}

Wei, Wei ^{[1
]}

Wang, Rui ^{[1
]}

Xu, Hongliang ^{[1
]}

Liu, Hongbo ^{[1
]}

机构：

[1] Zhengzhou Univ, Affiliated Hosp 1, Dept Neurol, Zhengzhou, Henan, Peoples R China

来源：

INTERNATIONAL JOURNAL OF NEUROSCIENCE | 2018年 / 128卷 / 03期

关键词：

ETFDH; MADD; novel; mutation; ACIDURIA TYPE-II; ELECTRON-TRANSFER FLAVOPROTEIN; ACIDEMIA TYPE-II; CHINESE PATIENTS; FIBROBLASTS;

D O I：

10.1080/00207454.2017.1380641

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Aim of the study: To report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Materials and methods: The genomic DNAs from a patient whose main clinical presentations are muscles weakness and hypoglycemia was analysed. Results: The patient was identified to carry compound heterozygous mutations in ETFDH gene. Two missense mutations c.814 G > A and c.389 A > T were found. Conclusion: This is the first report of c.814G > A mutation in ETFDH in adult patient with MADD.

引用

页码：291 / 294

页数：4

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