异戊酸血症的筛查与诊治现状

doi:10.3969/j.issn.2095-5340.2021.04.014

发育医学电子杂志

2021, Vol. 9

Issue (4): 310-312, 320 DOI: 10.3969/j.issn.2095-5340.2021.04.014

临床遗传综述

异戊酸血症的筛查与诊治现状

孙萌　李育霖　邹卉

（济南市妇幼保健院　新生儿疾病筛查中心，山东　济南
250001）

Current status of screening, diagnosis and treatment of isovaleric acidemia

Sun Meng, Li Yulin, Zou Hui

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摘要异戊酸血症（isovaleric acidemia，IVA）是由于异戊酰辅酶A 脱氢酶（isovaleryl-coenzyme Adehydrogenase，IVD）缺陷造成亮氨酸分解代谢异常，最终导致异戊酰辅酶A 及其大量有毒代谢产物在体内蓄积，从而引起代谢性酸中毒及多脏器功能损伤^［1］。

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关键词: IVA')" href="#">IVA 有机酸代谢病筛查

收稿日期: 2020-07-15 发布日期: 2021-07-29

基金资助: 山东省医药卫生发展科技项目（2014WS0204）

通讯作者: 邹卉 E-mail: Email：zouhui819@163.com

引用本文:

孙萌　李育霖　邹卉. 异戊酸血症的筛查与诊治现状[J]. 发育医学电子杂志, 2021, 9(4): 310-312, 320.
Sun Meng, Li Yulin, Zou Hui. Current status of screening, diagnosis and treatment of isovaleric acidemia. Journal of Developmental Medicine(Electronic Version), 2021, 9(4): 310-312, 320.

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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2021.04.014 或 http://www.fyyxzz.com/CN/Y2021/V9/I4/310

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