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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Acyl Carrier Protein / blood
-
Acyl Carrier Protein / deficiency
-
Congenital Disorders of Glycosylation / blood
-
Congenital Disorders of Glycosylation / therapy*
-
Glycoproteins / analysis
-
Glycoproteins / blood
-
Glycosylation
-
Humans
-
Infant
-
Infusions, Intravenous
-
Isoelectric Focusing
-
Male
-
Mannose / administration & dosage
-
Mannose / metabolism
-
Mannose / therapeutic use*
-
Phosphotransferases (Phosphomutases) / blood
-
Phosphotransferases (Phosphomutases) / deficiency
-
Transferrin / analysis
Substances
-
Acyl Carrier Protein
-
Glycoproteins
-
Transferrin
-
Phosphotransferases (Phosphomutases)
-
phosphomannomutase
-
Mannose