Research progress of mannose phosphate isomerase-congenital disorders of glycosylation
10.3760/cma.j.cn101070-20220629-00793
- VernacularTitle:磷酸甘露糖异构酶-先天性糖基化障碍研究进展
- Author:
Qiongqiong ZHANG
1
;
Weifeng LU
Author Information
1. 山东大学附属儿童医院(济南市儿童医院)新生儿科，济南 250022
- Keywords:
Mannose phosphate isomerase;
Glycosylation;
Metabolism, inborn errors;
Child
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(12):948-952
- CountryChina
- Language:Chinese
-
Abstract:
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.
