甲基丙二酸尿症(MMA)是我国有机酸尿症中最常见的类型,由于其在新生儿期常常缺乏特异性临床表现,症状类似缺血缺氧性脑病、败血症等疾病,极易误诊,延误治疗可导致患儿出现不可逆多脏器损害,甚至死亡,给患儿、家庭及社会带来极大痛苦与负担。因此,儿科临床医生应该重视该病的早期识别,尽早给予正确的干预治疗,以改善预后。本文针对甲基丙二酸尿症的病因、发病机制,以及在新生儿期的临床特点、实验室检测手段及治疗进展做一综述。 Methyl malonate (MMA) is the most common type of organic aciduria in our country. Due to its lack of specific clinical manifestations during neonatal period, the symptoms are similar to those of hypoxic-ischemic encephalopathy and sepsis. Misdiagnosis, delay treatment can lead to irreversible multiple organ damage in children, or even death, to children, families and society have brought great pain and burden. Therefore, pediatric clinicians should pay attention to the early identification of the disease, give the right intervention as soon as possible to improve the prognosis. In this paper, the etiology and pathogenesis of methylmalonic aciduria, as well as the clinical features in neonatal period, laboratory testing methods and treatment progress are reviewed.