中文摘要：

甲基丙二酸血症（methylmalonic acidemia，MMA）是一种常染色体隐性遗传的有机酸代谢障碍中较常见的疾病，可致多系统器官受累，可于婴儿甚至新生儿期发病，表现为喂养困难、反复呕吐、惊厥、肌张力异常、智力低下、溶血尿毒综合征等，其中MMA为始发原因导致的溶血尿毒综合征（hemolytic uremic syndrome，HUS）在儿童肾脏疾病中越来越被人们所了解，其诊断率逐年增高，现就MMA相关的HUS的流行病学、病因、发病机制、临床表现、治疗方面的进展进行综述。

英文摘要：

Methylmalonic acidemia（MMA） is one of the most common diseases of autosomal recessive inherited organic acid metabolic disorder, which can cause multiple organ involvement.It can be found in infants or even in the neonatal period and be manifested as feeding difficulty, repeated vomiting, convulsions, abnormal muscle tension, mental retardation, hemolytic uremic syndrome（HUS）, etc.In which HUS caused by MMA is better and better known by pediatricians when treating renal diseases while the diagnosis rate is increasing year by year.This article reviews the epidemiology, etiology, pathogenesis, clinical manifestations and treatment of HUS associated with MMA.