甲基丙二酸血症是最常见的有机酸代谢障碍。该病可导致神经系统损害、代谢紊乱、生长发育迟缓、脏器功能损害等,具有较高的病死率和致残率,对患病儿童危害巨大。近年来,随着串联质谱、气相色谱/质谱及基因检测技术的快速发展,遗传代谢病的筛查得以普及,大大提高了疾病的检出率,并诊断了一些症状前期病人,为甲基丙二酸血症患儿的早期诊治提供了有利条件,从而明显改善了本病预后。本文现就甲基丙二酸血症的研究进展进行综述。 Methyl malonate is the most common organic acid metabolism disorder. The disease can lead to nervous system damage, metabolic disorders, growth retardation, organ dysfunction, etc., with high mortality and morbidity, the great harm to the sick children. In recent years, with the rapid development of tandem mass spectrometry, gas chromatography / mass spectrometry and gene detection technologies, the screening of genetic metabolic diseases has been popularized, the detection rate of diseases has been greatly increased, and some patients with pre-symptomatic symptoms have been diagnosed as methylpropane Early diagnosis and treatment of children with diacidosis provided favorable conditions, which significantly improved the prognosis of the disease. This article reviews the research progress of methylmalonic acidemia.