NeuroRX

, Volume 3, Issue 2, pp 254–263

The congenital disorders of glycosylation: A multifaceted group of syndromes

Authors

  • Erik A. Eklund
    • Department of Cell and Molecular BiologyLund University
    • Program for Glycobiology and Carbohydrate ChemistryBurnham Institute for Medical Research
    • Program for Glycobiology and Carbohydrate ChemistryBurnham Institute for Medical Research
Article

DOI: 10.1016/j.nurx.2006.01.012

Cite this article as:
Eklund, E.A. & Freeze, H.H. NeuroRX (2006) 3: 254. doi:10.1016/j.nurx.2006.01.012

Summary

The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. They all stem from deficient N-glycosylation of proteins. To date the group contains 18 different subtypes: 12 of Type I (disrupted synthesis of the lipid-linked oligosaccharide precursor) and 6 of Type II (malfunctioning trimming/processing of the protein-bound oligosaccharide). Main features of CDG involve psychomotor retardation; ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features, including inverted nipples and subcutaneous fat pads; and strabismus. No treatment currently is available for the vast majority of these syndromes (CDG-Ib and CDG-IIc are exceptions), even though attempts to synthesize drugs for the most common subtype, CDG-Ia, have been made. In this review we will discuss the individual syndromes, with focus on their neuronal involvement, available and possible treatments, and future directions.

Key Words

N-glycosylationCDGmannosesynthetic compoundsbrain glycosylationataxiacerebellar hypoplasiacerebellar hypoplasiaseizures
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Copyright information

© The American Society for Experimental NeuroTherapeutics, Inc. 2006