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The congenital disorders of glycosylation: a multifaceted group of syndromes.

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Author

Summary, in English

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.

Department/s

  • Matrix Biology

Publishing year

2006

Language

English

Pages

63-254

Publication/Series

NeuroRx

Volume

3

Issue

2

Document type

Journal article

Publisher

Springer

Topic

  • Cell and Molecular Biology

Keywords

  • N-glycosylation
  • CDG
  • mannose
  • synthetic compounds
  • brain glycosylation
  • ataxia
  • cerebellar hypoplasia
  • seizures

Status

Published

Research group

  • Matrix Biology

ISBN/ISSN/Other

  • ISSN: 1545-5343