Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
[updated ].


Purpose: Many human disorders of glycosylation pathways have now been identified; they include defects in synthetic pathways for N-linked oligosaccharides, O-linked oligosaccharides, shared substrates, glycophosphatidylinositol (GPI) anchors, and dolichols. This overview will focus on disorders of the N-linked glycan synthetic pathway and some disorders that overlap this metabolic network (multiple-pathway disorders).

The goals of this overview on congenital disorders of glycosylation are the following:

Goal 1: To describe the clinical characteristics of congenital disorders of N-linked glycosylation

Goal 2: To review the causes of congenital disorders of N-linked glycosylation

Goal 3: To provide an evaluation strategy to identify the genetic cause of congenital disorders of glycosylation in a proband

Goal 4: To inform (when possible) management

Goal 5: To inform genetic counseling of family members of a proband with congenital disorders of N-linked glycosylation

Publication types

  • Review