Congenital Disorders of Glycosylation (CDG): Review

Glycosylation is the most important posttranslational change for proteins. There are more than 100 different types of congenital disorders of glycosylation (CDG). The most frequent is PMM2-CDG with over 700 patients described.N-Linked glycosylation starts from the cytoplasm through the endoplasmic reticulum to the Golgi apparatus, leading to CDG-I and CDG-II defects, respectively. Secretory N-glycosylation abnormalities can be demonstrated by transferrin isoelectric focusing (the screening test for most CDG types). There are also congenital O-linked, combined and lipid-linked glycosylation defects.Clinically, there is often multisystem involvement or a neurologic phenotype. Multiple abnormalities are usually present by routine laboratory analysis (e.g. increased serum transaminases, decreased coagulation factors and endocrine anomalies).Aetiologic treatment is limited to a handful of CDG (mannose supplementation for MPI-CDG and galactose for PGM1-CDG). The mainstay is supportive care. Twenty percent of patients with PMM2-CDG die within 2 years; once the age of 4 year is reached, chances for survival rise dramatically.

Jaar van publicatie:2016