title: Congenital disorders of glycosylation: a rapidly expanding disease family.
abstract: Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting from defects in the synthesis of glycans and in the attachment of glycans to other compounds. These disorders cause a wide range of human diseases, with examples emanating from all medical subspecialties. Since our 2001 review on CDG ( 36 ), this field has seen substantial growth: The number of N-glycosylation defects has doubled (from 6 to 12), five new O-glycosylation defects have been added to the two previously known ones, three combined N- and O-glycosylation defects have been identified, the first lipid glycosylation defects have been discovered, and a new domain, that of the hyperglycosylation defects, has been introduced. A number of CDG are due to defects in enzymes with a putative glycosyltransferase function. There is also a growing group of patients with unidentified defects (CDG-x), some with typical clinical presentations and others with presentations not seen before in CDG. This review focuses on the clinical, biochemical, and genetic characteristics of CDG and on advances expected in their future study and clinical management.
authors.affiliation: Department of Pediatrics, Center for Metabolic Disease, University of Leuven, Leuven, Belgium. Jaak.Jaeken@uz.kuleuven.ac.be
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D002114:Calcinosis / Q000235:genetics; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics*; D003569:Cytidine Monophosphate N-Acetylneuraminic Acid / Q000378:metabolism; D006031:Glycosylation; D017261:Glycosylphosphatidylinositols / Q000172:deficiency; D016695:Glycosyltransferases / Q000172:deficiency / Q000235:genetics; D006801:Humans; D015576:Hyperostosis / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics; D026901:Membrane Transport Proteins / Q000172:deficiency / Q000235:genetics; D008954:Models, Biological; D011134:Polysaccharides / Q000378:metabolism*; D011499:Protein Processing, Post-Translational / Q000235:genetics; D013577:Syndrome; D014536:Uridine Diphosphate N-Acetylgalactosamine / Q000378:metabolism
chemical_list: D017261:Glycosylphosphatidylinositols; D026901:Membrane Transport Proteins; D011134:Polysaccharides; D003569:Cytidine Monophosphate N-Acetylneuraminic Acid; D014536:Uridine Diphosphate N-Acetylgalactosamine; D016695:Glycosyltransferases