doi:10.11852/zgetbjzz2015-23-11-15

Abstract

摘要： 目前已报道有5种基因突变类型(mut⁰、 mut^-、 cblA、 cblB、 cblD2 )可导致甲基丙二酸血症,有4种基因突变类型(cblC、cblD、cblF、cblJ)可导致甲基丙二酸血症合并同型半胱氨酸尿症; cblX基因(HCFC1)突变导致X-连锁的甲基丙二酸血症合并同型半胱氨酸尿症。cblA型甲基丙二酸血症预后最好,cblC型甲基丙二酸血症合并同型半胱氨酸尿症是中国人群中多见的疾病类型。甲基丙二酸血症、甲基丙二酸血症合并同型半胱氨酸尿症患者的临床治疗效果及预后与基因型有密切联系。及早通过基因分型进行分子诊断,可以明确诊断,对指导治疗、判断预后以及对下一胎进行产前诊断具有重要意义。

关键词: 甲基丙二酸血症, 甲基丙二酸血症合并同型半胱氨酸尿症, 基因型

CLC Number:

R179

郑雷,童凡. 影响甲基丙二酸血症患儿临床疗效及预后的分子生物学机制分析[J]. 中国儿童保健杂志, 2015, 23(11): 1169-1171.

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影响甲基丙二酸血症患儿临床疗效及预后的分子生物学机制分析

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