Inherited Disorders of Glycosylation

Abstract

Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread functions of glycosylation, inherited disorders of glycosylation are multisystemic.

Keywords: glycosylation; glycoproteins; glycolipids; congenital; muscular dystrophy

Figure 1.

General Schematic of protein glycosylation. (A) The sugar substrates are activated in the cytoplasm, (B) then transported into the Endoplasmic reticulum or the Golgi through a specific sugar transporter and (C) finally attached to the growing oligosaccharide chain on the protein via a glycosyltransferase.

Figure 2.

N‐linked glycosylation pathway with sites of defects noted in blue.

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Freeze HH (2006) Genetic defects in the human glycome. Nature Reviews 7: 537–551.

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Van den Steen P, Rudd PM, Dwek RA and Opdenakker G (1998) Concepts and principles of O‐linked glycosylation. Critical Review of Biochemistry and Molecular Biology 33: 151–208.

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How to Cite close
Sparks, Susan E(Sep 2007) Inherited Disorders of Glycosylation. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020230]