Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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

Eklund, Erik LU and Freeze, Hudson H (2006) In NeuroRx 3(2). p.63-254
Abstract
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... (More)
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. (Less)
Please use this url to cite or link to this publication:
author
and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
N-glycosylation, CDG, mannose, synthetic compounds, brain glycosylation, ataxia, cerebellar hypoplasia, seizures
in
NeuroRx
volume
3
issue
2
pages
63 - 254
publisher
Springer
external identifiers
  • scopus:33646135550
  • pmid:16554263
ISSN
1545-5343
DOI
10.1016/j.nurx.2006.01.012
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Cell and Matrix Biology (LUR000002), Matrix biology (013212025)
id
0e8200b5-dbb3-4992-82a5-e203c6955afd (old id 154464)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16554263&dopt=Abstract
date added to LUP
2016-04-01 15:47:11
date last changed
2020-12-15 03:05:11
@article{0e8200b5-dbb3-4992-82a5-e203c6955afd,
  abstract     = {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.},
  author       = {Eklund, Erik and Freeze, Hudson H},
  issn         = {1545-5343},
  language     = {eng},
  number       = {2},
  pages        = {63--254},
  publisher    = {Springer},
  series       = {NeuroRx},
  title        = {The congenital disorders of glycosylation: a multifaceted group of syndromes.},
  url          = {http://dx.doi.org/10.1016/j.nurx.2006.01.012},
  doi          = {10.1016/j.nurx.2006.01.012},
  volume       = {3},
  year         = {2006},
}