Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

Excerpt

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: Describe the clinical characteristics of congenital disorders of N-linked glycosylation.

Goal 2: Review the causes of congenital disorders of N-linked glycosylation.

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

Goal 4: Inform (when possible) management.

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