title: Diseases of aberrant glycosylation.
abstract: Recently a defective glycosylation of glycoconjugates has been implicated in the pathogenesis of a number of heritable or acquired diseases of humans. Herein I discuss them under the name of diseases of aberrant glycosylation. These are: congenital dyserythropoietic anemia type II, carbohydrate-deficient glycoprotein syndrome, I-cell disease, galactosemia in subjects on galactose-free diet, variants of leukocyte adhesion deficiency, and of Ehlers-Danlos syndrome, paroxysmal nocturnal hemoglobinuria, and Tn syndrome. Regarding the present views on the function of glycoconjugates it is probably significant that in most instances defective or missing glycoproteins (or proteoglycans) but not glycosphingolipids, are probably involved in the pathogenesis of these diseases.
authors.affiliation: Department of Biochemistry, Institute of Hematology and Blood Transfusion, Warsaw, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Kościelak
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000209:etiology; D002240:Carbohydrate Sequence; D004535:Ehlers-Danlos Syndrome / Q000209:etiology; D005260:Female; D005693:Galactosemias / Q000209:etiology; D006023:Glycoproteins / Q000096:biosynthesis* / Q000737:chemistry; D006028:Glycosphingolipids / Q000096:biosynthesis / Q000737:chemistry; D006031:Glycosylation; D006457:Hemoglobinuria, Paroxysmal / Q000209:etiology; D006801:Humans; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000209:etiology; D008297:Male; D008659:Metabolic Diseases / Q000201:enzymology / Q000209:etiology*; D008969:Molecular Sequence Data; D009081:Mucolipidoses / Q000209:etiology; D011134:Polysaccharides / Q000096:biosynthesis / Q000737:chemistry
chemical_list: D006023:Glycoproteins; D006028:Glycosphingolipids; D011134:Polysaccharides