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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 2/2016

01-03-2016 | Review

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests

Authors: Florin Sasarman, Catalina Maftei, Philippe M. Campeau, Catherine Brunel-Guitton, Grant A. Mitchell, Pierre Allard

Published in: Journal of Inherited Metabolic Disease | Issue 2/2016

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Abstract

Glycosaminoglycans (GAG) are long, unbranched heteropolymers with repeating disaccharide units that make up the carbohydrate moiety of proteoglycans. Six distinct classes of GAGs are recognized. Their synthesis follows one of three biosynthetic pathways, depending on the type of oligosaccharide linker they contain. Chondroitin sulfate, dermatan sulfate, heparan sulfate, and heparin sulfate contain a common tetrasaccharide linker that is O-linked to specific serine residues in core proteins. Keratan sulfate can contain three different linkers, either N-linked to asparagine or O-linked to serine/threonine residues in core proteins. Finally, hyaluronic acid does not contain a linker and is not covalently attached to a core protein. Most inborn errors of GAG biosynthesis are reported in small numbers of patients. To date, in 20 diseases, convincing evidence for pathogenicity has been presented for mutations in a total of 16 genes encoding glycosyltransferases, sulfotransferases, epimerases or transporters. GAG synthesis defects should be suspected in patients with a combination of characteristic clinical features in more than one connective tissue compartment: bone and cartilage (short long bones with or without scoliosis), ligaments (joint laxity/dislocations), and subepithelial (skin, sclerae). Some produce distinct clinical syndromes. The commonest laboratory tests used for this group of diseases are analysis of GAGs, enzyme assays, and molecular testing. In principle, GAG analysis has potential as a general first-line diagnostic test for GAG biosynthesis disorders.
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Metadata
Title
Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests
Authors
Florin Sasarman
Catalina Maftei
Philippe M. Campeau
Catherine Brunel-Guitton
Grant A. Mitchell
Pierre Allard
Publication date
01-03-2016
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 2/2016
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-015-9903-z

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