title: Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.
abstract: Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended.
authors.affiliation: Klinik und Poliklinik für Kinderheilkunde, Albert-Schweitzer-Str. 33, 48149 Münster, Germany. marquat@uni-muenster.de
authors.forename: T
authors.initials: T
authors.lastname: Marquardt
authors.forename: J
authors.initials: J
authors.lastname: Denecke
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics / Q000378:metabolism; D000818:Animals; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology* / Q000628:therapy; D004286:Dolichols / Q000096:biosynthesis; D005097:Exostoses, Multiple Hereditary / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D007525:Isoelectric Focusing; D011371:Progeria / Q000235:genetics; D011499:Protein Processing, Post-Translational / Q000502:physiology; D014168:Transferrin / Q000032:analysis
chemical_list: D004286:Dolichols; D014168:Transferrin