Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency.
10.7499/j.issn.1008-8830.2209049
- Author:
Shu-Yan ZHOU
1
Author Information
1. Department of Gastroenterology, Children's Hospital of Chongqing Medical University/National Clinical Research Center for Child Health and Disorders/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China.
- Publication Type:Journal Article
- Keywords:
Congenital disorder of glycosylation;
Gene mutation;
PMM2 gene;
Phosphomannomutase 2 deficiency
- MeSH:
Humans;
Child;
Congenital Disorders of Glycosylation/therapy*;
Mutation
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(2):223-228
- CountryChina
- Language:Chinese
-
Abstract:
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.
