磷酸甘露糖异构酶-先天性糖基化障碍研究进展

Research progress of mannose phosphate isomerase-congenital disorders of glycosylation

磷酸甘露糖异构酶-先天性糖基化障碍(MPI-CDG)是一种可治的先天性遗传代谢病,由编码MPI的基因致病性变异导致,主要表现为腹泻、肝大、低血糖和凝血功能障碍,甘露糖有较好的治疗效果,但目前国内报道的病例数量极少,现就MPI-CDG的发病机制、临床表现、基因型、诊断、治疗和管理进展进行综述,以提高临床医师对此病的认识。

Mannose phosphate isomerase-congenital disorders of glycosylation(MPI-CDG)is a treatable congenital genetic metabolic disease caused by the pathogenic variation of the gene encoding MPI.It is mainly manifested as diarrhea,hepatomegaly,hypoglycemia,and coagulation dysfunction.This review described the pathogenesis,clinical manifestations,genotypes,diagnosis,treatment and management of MPI-CDG,aiming to enhance the understanding of MPI-CDG.