title: Congenital disorders of glycosylation.
abstract: Congenital disorders of glycosylation (CDG) are a rapidly growing group of genetic diseases that are due to defects in the synthesis of glycans and in the attachment of glycans to other compounds. Most CDG are multisystem diseases that include severe brain involvement. The CDG causing sialic acid deficiency of N-glycans can be diagnosed by isoelectrofocusing of serum sialotransferrins. An efficient treatment, namely oral D-mannose, is available for only one CDG (CDG-Ib). In many patients with CDG, the basic defect is unknown (CDG-x). Glycan structural analysis, yeast genetics, and knockout animal models are essential tools in the elucidation of novel CDG. Eleven primary genetic glycosylation diseases have been discovered and their basic defects identified: six in the N-glycan assembly, three in the N-glycan processing, and two in the O-glycan (glycosaminoglycan) assembly. This review summarizes their clinical, biochemical, and genetic characteristics and speculates on further developments in this field.
authors.affiliation: Department of Paediatrics, Centre for Metabolic Disease, University of Leuven, Leuven, Belgium. jaak.jaeken@uz.kuleuven.ac.be
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000145:classification / Q000235:genetics*; D006031:Glycosylation; D006801:Humans; D011134:Polysaccharides / Q000378:metabolism
chemical_list: D011134:Polysaccharides