发育医学电子杂志 Vol. 6 20-24
发育基础
专题笔谈
戊二酸血症Ⅰ型的诊治、筛查 及产前诊断
鄂慧姝 韩连书
上海交通大学医学院附属新华医院 上海市儿科医学研究所 内分泌/ 遗传科，上海 200092
Glutaricacidemia type I: diagnosis, management, new born screening and prenatal diagnose #br#
E Hui-shu, Han Lian-shu
摘要 戊二酸血症Ⅰ型（glutaricacidemia typeⅠ，GA-Ⅰ，OMIM 231670）是一种有机酸血症，因编码戊二酰辅酶A 脱氢酶（glutaryl - CoA dehydrogenase，GCDH）的基因突变所致，属于常染色体隐性遗传病［1］ 。该疾病的患病率具有种族和地区差异，加拿大部分地区高达1/300，国内报道约为1/60000［2］ 。上海交通大学医学院附属新华医院（简称本院）通过串联质谱（tandem mass spectrometry）技术检出GA-Ⅰ病例占有机酸血症7.6%［3］ 。随着诊断技术的不断提高，GA-Ⅰ的检出率有所上升，但该疾病临床表现复杂多样，容易误诊。如果能早期诊断，对改善预后有重要意义。现对GA-Ⅰ在诊治、筛查及产前诊断方面的进展进行阐述。
Key words:
戊二酸血症Ⅰ型
诊断
治疗
筛查
产前诊断
收稿日期: 2017-12-04
出版日期: 2018-01-30
发布日期: 2018-03-11
期的出版日期: 2018-01-30
基金资助: 国家重点研发计划（2016YFC0901505，2016YFC0905100）
通讯作者:
韩连书 https://baike.baidu.com/item/韩连书/15398060?fr=aladdin
E-mail: hanlianshu@xinhuamed.com.cn
引用本文:
鄂慧姝 韩连书. 戊二酸血症Ⅰ型的诊治、筛查 及产前诊断 [J]. 发育医学电子杂志, 2018, 6(1): 20-24.
Glutaricacidemia type I: diagnosis, management, new born screening and prenatal diagnose #br#. Journal of Developmental Medicine(Electronic Version), 2018, 6(1): 20-24.
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http://www.fyyxzz.com/CN/Y2018/V6/I1/20
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