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: E Mayatepek, M Schröder, D Kohlmüller, W P Bieger, W Nützenadel
• Journal: Acta paediatrica (Oslo, Norway : 1992) (Acta Paediatr) Vol. 86 Issue 10 Pg. 1138-40 (Oct 1997) ISSN: 0803-5253 [Print] Norway
• PMID: 9350901 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Acyl Carrier Protein
• Glycoproteins
• Transferrin
• Phosphotransferases (Phosphomutases)
• phosphomannomutase
• Mannose

Topics

• Acyl Carrier Protein (blood, deficiency)
• Congenital Disorders of Glycosylation (blood, therapy)
• Glycoproteins (analysis, blood)
• Glycosylation
• Humans
• Infant
• Infusions, Intravenous
• Isoelectric Focusing
• Male
• Mannose (administration & dosage, metabolism, therapeutic use)
• Phosphotransferases (Phosphomutases) (blood, deficiency)
• Transferrin (analysis)