甲基丙二酸尿症(MMA)是最常见的有机酸代谢病之一,由于甲基丙二酰辅酶A变位酶(MCM)缺陷或其辅酶钴胺素(Cb)的缺陷所致,属于常染色体隐性遗传疾病。其中MCM缺陷和部分Cb代谢障碍亚型,如Cb1A、Cb1B,表现为单纯的MMA,而Cb1C、Cb1D、Cb1F、Cb1J、Cb1X亚型则表现为MMA伴高同型半胱氨酸血症(MMA-HC)[1],后者是我国 Methyl malonate (MMA) is one of the most common organic acid metabolic diseases due to defects in methylmalonyl-CoA mutase (MCM) or its cobalamin cobalamin (Cb) Belong to autosomal recessive genetic disease. Among them, MCM deficiency and partial Cb metabolic disorder subtypes, such as Cb1A and Cb1B, showed simple MMA, whereas Cb1C, Cb1D, Cb1F, Cb1J and Cb1X subtypes showed MMA with hyperhomocysteinemia (MMA- HC) [1], the latter is my country