Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.
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.
Mayatepek
E
E
Division of Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.
Schröder
M
M
Kohlmüller
D
D
Bieger
W P
WP
Nützenadel
W
W
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
D000213:Acyl Carrier Protein; D006023:Glycoproteins; D014168:Transferrin; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase; D008358:Mannose