甲基丙二酸血症基因诊断策略与治疗进展  

Advances in genetic diagnosis and treatment of methylmalonic acidemia

作　　者：管晓娇 陈玉娇 闫有圣 GUAN Xiaojiao;CHEN Yujiao;YAN Yousheng(Prenatal Diagnostic Center,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing Maternal and Child Health Care Hospital,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院产前诊断中心,北京100026

出　　处：《中国优生与遗传杂志》2024年第12期2683-2687,共5页Chinese Journal of Birth Health & Heredity

摘　　要：甲基丙二酸血症(MMA)是由多种基因变异引起的常染色体隐性遗传病,以甲基丙二酸及其衍生物代谢紊乱为特征,常导致严重的神经系统损伤及其他系统症状。近年来,全外显子组测序技术的应用显著提高了MMA的诊断效率,使得更多表型不特异、罕见基因类型病例得到诊断和干预。当前针对MMA的个性化营养疗法、小分子调节酶活性稳定、酶替代及基因编辑技术等一系列新型治疗方法,在提升患者治疗效果并改善患者预后方面均展现了广阔前景。本文综述了MMA的基因诊断与治疗新进展,以期为临床实践提供参考。Methylmalonic acidemia(MMA)is an autosomal recessive metabolic disorder caused by multiple gene variations.This condition involves the disruption of the metabolism of methylmalonic acid and its derivatives,often leading to severe neurological damage and other multisystemic clinical symptoms.In recent years,the application of whole exome sequencing(WES)has significantly improved the diagnostic efficiency of MMA,enabling the identification and intervention of cases with atypical phenotypes and rare genetic variants.Currently,strategies such as personalized nutritional therapy,small molecule regulation of enzyme activity stabilization,enzyme replacement,and gene editing technologies offer promising prospects for improving therapeutic effect and outcomes in MMA.This article summarizes the new progress in the genetic diagnosis and treatment of MMA,in order to provide reference for clinical practice.

关 键 词：甲基丙二酸血症(MMA) 基因诊断 基因编辑 全外显子组测序 

分 类 号：R596.1[医药卫生—内科学] R440[医药卫生—临床医学]