Protein Glysosylation and Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation (CDG) form a group of inborn errors of metabolism, first described by Jaeken in 1987. Since then the molecular basis has been delineated in 23 different CDG subtypes. All underlying molecular defects in CDG interfere with the process of glycosylation, thus having functional consequences for many proteins. In the majority of the CDG subtypes the molecular defect has been found in genes coding for proteins related to the endoplasmic reticulum. Part of the glycosylation process takes place in the Golgi-apparatus. In most of the patients with Golgi-related glycosylation disorders the molecular etiology remains unsolved. The current review focusses on the biochemical background and clinical presentation of the disorders of N-linked, O-linked and combined N-and O-linked glycosylation.
KeywordsCardiomyopathy Proteinuria Oligosaccharide Galactose Cataract
Congenital disorders of glycosylation
Conserved oligomeric Golgi
Transferrin isoelectric focusing
Lipid linked oligosaccharides
Autosomal recessive cutis laxa
(For Abbreviations of enzymes see Table 5.1)
This work was supported by a grant from the European Commission (FP6 – Euroglycanet – contract no. 512131).
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