title: Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.
abstract: The effects on isoelectrofocusing patterns of serum glycoproteins were studied in a patient with CDG syndrome type I and phosphomannomutase deficiency during 3 weeks of continuous intravenous mannose infusion. Doses of 5.7 g/kg/day led to stable serum mannose levels up to 2.0 mmol/l and were well tolerated without signs of liver or renal toxicity. While most of the pathological glycoprotein patterns, including alpha1-antitrypsin, typical for CDG syndrome type I remained unchanged, mannose infusion led to a unique change of the isoelectrofocusing pattern of serum sialotransferrins with appearance of two extra bands after 3 weeks of treatment.
authors.affiliation: Division of Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: M
authors.initials: M
authors.lastname: Schröder
authors.forename: D
authors.initials: D
authors.lastname: Kohlmüller
authors.forename: W P
authors.initials: WP
authors.lastname: Bieger
authors.forename: W
authors.initials: W
authors.lastname: Nützenadel
mesh_terms: D000213:Acyl Carrier Protein / Q000097:blood / Q000172:deficiency; D018981:Congenital Disorders of Glycosylation / Q000097:blood / Q000628:therapy*; D006023:Glycoproteins / Q000032:analysis / Q000097:blood; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007262:Infusions, Intravenous; D007525:Isoelectric Focusing; D008297:Male; D008358:Mannose / Q000008:administration & dosage / Q000378:metabolism / Q000627:therapeutic use*; D017875:Phosphotransferases (Phosphomutases) / Q000097:blood / Q000172:deficiency; D014168:Transferrin / Q000032:analysis
chemical_list: D000213:Acyl Carrier Protein; D006023:Glycoproteins; D014168:Transferrin; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase; D008358:Mannose