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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)
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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
2022-01-28 07:05:55
@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}},
  keywords     = {{N-glycosylation; CDG; mannose; synthetic compounds; brain glycosylation; ataxia; cerebellar hypoplasia; seizures}},
  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}},
}