肝豆状核变性合并MTHFR基因突变1例报告

李宁; 张欣; 李锐; 焦琳

doi:10.3969/j.issn.1001-5256.2019.11.033

肝豆状核变性合并MTHFR基因突变1例报告

DOI: 10.3969/j.issn.1001-5256.2019.11.033

1. 西安医学院
2. 陕西省人民医院神经内三科
3. 西安长安医院消化内科

详细信息

中图分类号: R575
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出版历程
- 出版日期: 2019-11-20

Hepatolenticular degeneration with MTHFR gene mutation: A case report

Xi'an Medical University

摘要

摘要: <正>肝豆状核变性（hepatolenticular degeneration,HLD）又称威尔逊病,是一种常染色体隐性遗传病,在世界范围内发病率为1/10万～1/3万[1],致病基因携带者约1/90[2],目前中国尚缺乏大样本多中心的HLD发病率调查,但有文献[3]分析,该病发病率在中国比西方国家更高。好发于青少年,是至今为数不多、可用药物治疗的神经系统遗传性疾病之一。MTHFR基因编码的亚甲基四氢叶酸还原酶是同型半胱氨酸（Hcy）代谢过程
- 肝豆状核变性 /
- MTHFR基因 /
- 突变 /
- 半胱氨酸
- hepatolenticular degeneration /
- MTHFR gene /
- mutation /
- cysteine

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参考文献(12)

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