Abstract：
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.
摘要：
甲基丙二酸血症(MMA)是一系列罕见的遗传性有机酸代谢紊乱,临床表现多变,非特异性,特别是神经系统症状，如呕吐，嗜睡,等。即使及时治疗，患者仍可能有不同程度的神经系统并发症，甚至可能死亡。预后主要与遗传变异的类型有关,代谢物的水平，新生儿筛查,发病和早期开始治疗。本文就各类MMA患者的预后及可能影响因素作一综述。
