甲基丙二酸血症不同类型患者的预后的研究进展

Research progress on the prognosis of patients with various types of Methylmalonic acidemia

甲基丙二酸血症是一种常见的有机酸血症,呈常染色体隐性遗传,临床表现无特异性,以呕吐、嗜睡等神经系统症状为主。即使积极治疗,患儿仍可能遗留不同程度的神经系统并发症,甚至死亡。其预后主要与基因变异的类型、毒性代谢物水平、是否通过新生儿筛查确诊、是否发病及是否早期诊治有关。本文就不同类型的甲基丙二酸血症患者的预后及其影响因素等进行综述。

Methylmalonic acidemia(MMA)is a series of rare inherited organic acid metabolic disorders with variable and nonspecific clinical manifestations,in particular neurological symptoms such as vomiting,lethargy,etc.Even with timely treatment,patients may still have various degrees of neurological complications and can even die.The prognosis is mainly related to the type of genetic variants,level of metabolites,newborn screening,onset of disease and early initiation of treatment.This article has reviewed the prognosis of patients with various types of MMA and factors that may affect it.