title: Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond.
abstract: The Congenital Disorders of Glycosylation (CDG) are a collection of over 20 inherited diseases that impair protein N-glycosylation. The clinical appearance of CDG patients is quite diverse making it difficult for physicians to recognize them. A simple blood test of transferrin glycosylation status signals a glycosylation abnormality, but not the specific defect. An abnormal trasferrin glycosylation pattern suggests that the defect is in either genes that synthesize and add the precursor glycan (Glc(3)Man(9)GlcNAc(2)) to proteins (Type I) or genes that process the protein-bound N-glycans (Type II). Type I defects create unoccupied glycosylation sites, while Type II defects give fully occupied sites with abnormally processed glycans. These types are expected to be mutually exclusive, but a group of patients is now emerging who have variable coagulopathy and hypoglycemia together with a combination of Type I and Type II transferrin features. This surprising finding makes identifying their defects more challenging, but the defects and associated clinical manifestations of these patients suggest that the N-glycosylation pathway has some secrets left to share.
authors.affiliation: Glycobiology and Carbohydrate Chemistry Program, Burnham Institute for Medical Research, 10901 N. Torrey Pines Rd., La Jolla, CA, 92037, USA. hudson@burnham.org
authors.forename: Hudson H
authors.initials: HH
authors.lastname: Freeze
mesh_terms: D001778:Blood Coagulation Disorders / Q000235:genetics* / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D007003:Hypoglycemia / Q000235:genetics* / Q000378:metabolism; D046188:Protein Modification, Translational / Q000235:genetics*; D014168:Transferrin / Q000235:genetics* / Q000378:metabolism
chemical_list: D014168:Transferrin