Congenital disorders of glycosylation

Abstract

Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of autosomal recessive inherited diseases that affect the biosynthesis of glycoproteins and present with multiorgan involvement, which are mostly accompanied by neurologic symptoms. The transfer of oligosaccharides onto newly synthesized proteins is one of the most widespread forms of co- and posttranslational modifications. Glycoproteins are located in subcellular organelles, cellular membranes and are highly abundant in serum. Oligosaccharide moieties of glycoproteins affect their folding, transport as well as their biologic activity and stability. The complex process of protein glycosylation requires more than 100 glycosyltransferases, glycosidases, and transport proteins. Most types of CDG can easily be detected by isoelectric focusing of serum transferrin. © 2008 Springer-Verlag.