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Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2005 Aug 15 [updated 2017 Jan 12].

Author information

1
Sanofi Genzyme, Cambridge, Massachusetts
2
National Institutes of Health, Bethesda, Maryland

Excerpt

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

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