Phosphomannomutase 2 deficiency is the most common form of N-glycosylation disorders and is also known as phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It is an autosomal recessive disease with multi-system involvements and is caused by mutations in the PMM2 gene (OMIM: 601785), with varying severities in individuals. At present, there is still no specific therapy for PMM2-CDG, and early identification, early diagnosis, and early treatment can effectively prolong the life span of pediatric patients. This article reviews the advances in the diagnosis and treatment of PMM2-CDG.
磷酸甘露糖变位酶2缺乏症是最常见的N-糖基化障碍，又称磷酸甘露糖变位酶2相关性先天性糖基化障碍（phosphomannomutase 2-congenital disorder of glycosylation，PMM2-CDG），是一种常染色体隐性遗传的多系统疾病，由PMM2基因（OMIM：601785）突变所致，病情轻重不一，目前尚无针对PMM2-CDG的特异疗法，早发现、早诊断、早治疗可有效延长患儿的生存年限。该文就PMM2-CDG的诊疗进展进行综述。.
Keywords: Congenital disorder of glycosylation; Gene mutation; PMM2 gene; Phosphomannomutase 2 deficiency.