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Review

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

Susan E Sparks  1 , Donna M Krasnewich  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Free Books & Documents
Review

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview

Susan E Sparks et al.
Free Books & Documents

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 purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of congenital disorders of N-linked glycosylation;

  2. 2

    Review the causes of congenital disorders of N-linked glycosylation;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of congenital disorders of glycosylation in a proband;

  4. 4

    Inform (when possible) management;

  5. 5

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

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