Abstract: Methylmalonic acidemia（MMA） also known as methylmalonic aciduria，is one of the the most common inherited metabolic disease in China. Although it is a rare disease，it is not uncommon in clinical practice. Nervous system injury is the main complication of methylmalonic acidemia，which seriously affects the quality of life of children. However，the occurrence，mechanism， prevention and treatment still need to be further studied. Early detection and identification of methylmalonic acidemia with neurodevelopmental disorder，and timely and effective intervention can minimize neurological damage and improve long-term prognosis. Starting from the reasons for the formation of neurodevelopmental disorders methylmalonic acidemia，the neurodevelopmental characteristics and rehabilitation treatment strategies of MMA are described.

Key words: methylmalonic acidemia, child, neurodevelopment, rehabilitation

摘要： 甲基丙二酸血症又称甲基丙二酸尿症，是我国最常见的遗传代谢病之一，虽然属于罕见病，但临床并不少见。神经发育障碍是甲基丙二酸血症的主要并发症，严重影响患儿的生存质量，对于其发生发展机制及防治方法仍亟待深入研究。早期发现和识别伴有神经发育异常的甲基丙二酸血症患儿，采取及时有效干预，可最大程度降低神经系统损伤，改善长期预后。该文从甲基丙二酸血症神经发育障碍的形成原因出发，对甲基丙二酸血症患儿的神经发育特征及康复治疗策略进行阐述。

关键词: 甲基丙二酸血症, 儿童, 神经发育, 康复