[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].

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.

SUBMITTER: Zhou SY 

PROVIDER: S-EPMC9979379 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature