title: Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
abstract: The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991. Both these patients are therefore designated CDG syndrome type II. Compared with type I patients they have a more severe psychomotor retardation but no peripheral neuropathy nor cerebellar hypoplasia. The serum transferrin isoform pattern obtained by isoelectric focusing showed disialotransferrin as the major fraction. The serum disialotransferrin, studied in the present patient, contained two moles of truncated monoantennary Sialyl-Gal-GlcNAc-Man(alpha 1-->3)[Man(alpha 1-->6)]Man(beta 1-->4)GlcNAc (beta 1-->4)GlcNAc-Asn per mole of transferrin. A profoundly deficient activity of the Golgi enzyme N-acetylglucosaminyltransferase II (EC 2.4.1.143) was demonstrated in fibroblasts.
authors.affiliation: Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: H
authors.initials: H
authors.lastname: Schachter
authors.forename: H
authors.initials: H
authors.lastname: Carchon
authors.forename: P
authors.initials: P
authors.lastname: De Cock
authors.forename: B
authors.initials: B
authors.lastname: Coddeville
authors.forename: G
authors.initials: G
authors.lastname: Spik
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000145:classification* / Q000201:enzymology; D002240:Carbohydrate Sequence; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D006023:Glycoproteins / Q000378:metabolism*; D006031:Glycosylation; D006056:Golgi Apparatus / Q000201:enzymology*; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D008969:Molecular Sequence Data; D017351:N-Acetylglucosaminyltransferases / Q000172:deficiency*; D014168:Transferrin / Q000032:analysis
chemical_list: D006023:Glycoproteins; D014168:Transferrin; D017351:N-Acetylglucosaminyltransferases; C063312:beta-1,3-galactosyl-0-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase