The congenital disorders of glycosylation: a multifaceted group of syndromes.
(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:
https://lup.lub.lu.se/record/154464
- author
- Eklund, Erik LU and Freeze, Hudson H
- organization
- publishing date
- 2006
- 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}}, }