甲基丙二酸血症发病和诊治及预后的研究进展

甲基丙二酸血症是最常见的有机酸代谢障碍。该病可导致神经系统损害、代谢紊乱、生长发育迟缓、脏器功能损害等,具有较高的病死率和致残率,对患病儿童危害巨大。近年来,随着串联质谱、气相色谱/质谱及基因检测技术的快速发展,遗传代谢病的筛查得以普及,大大提高了疾病的检出率,并诊断了一些症状前期病人,为甲基丙二酸血症患儿的早期诊治提供了有利条件,从而明显改善了本病预后。本文现就甲基丙二酸血症的研究进展进行综述。

Update of methylmalonicacidemia in incidence,diagnosis,treatment and prognosis

Methylmalonicacidemia is the most common disease of organic acid disorder.It often leads to impairment of central nerve system,metabolic disorder,poor growth,organ dysfunction and so on.Methylmalonicacidemia has high rate of death and disability which does tremendous harm for affected children.In recent years,as the rapid development of tandem mass spectrometry,gaschromatography-mass spectrometry,and gene testing technology,screening for inborn errors of metabolism is widespread.This increases the detection rate of the disease and diagnoses certain presymptomatic patients.Therefore,kids suffering from methylmalonicacidemia have advantages in diagnosis and treatment at early time which improves their prognosis obviously.This paper is a review of update of methylmalonicacidemia.