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Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

Bengtson, Per LU ; Ng, Bobby G; Jaeken, Jaak; Matthijs, Gert; Freeze, Hudson H and Eklund, Erik LU (2016) In Journal of Inherited Metabolic Disease 39(1). p.107-114
Abstract
ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) where the genetic defect disrupts the synthesis of the lipid-linked oligosaccharide precursor required for N-glycosylation. The initial step in the investigation for these disorders involves the demonstration of hypoglycosylated serum transferrin (TF). There are no specific biomarkers of this CDG subtype known to date. An LC/MS approach was used to analyze sera from patients with ALG1-CDG, PMM2-CDG, suspected CDG, and individuals with alcohol abuse. We show mass spectrometric data combined with data from enzymatic digestions that suggest the presence of a tetrasaccharide consisting of two N-acetylglucosamines, one galactose, and one sialic acid,... (More)
ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) where the genetic defect disrupts the synthesis of the lipid-linked oligosaccharide precursor required for N-glycosylation. The initial step in the investigation for these disorders involves the demonstration of hypoglycosylated serum transferrin (TF). There are no specific biomarkers of this CDG subtype known to date. An LC/MS approach was used to analyze sera from patients with ALG1-CDG, PMM2-CDG, suspected CDG, and individuals with alcohol abuse. We show mass spectrometric data combined with data from enzymatic digestions that suggest the presence of a tetrasaccharide consisting of two N-acetylglucosamines, one galactose, and one sialic acid, appearing on serum TF, is a biomarker of this particular CDG subtype. This is the first time analysis of serum TF can suggest a specific CDG type I subtype and we suggest this tetrasaccharide be used in the clinic to guide the ALG1-CDG diagnostic process. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Inherited Metabolic Disease
volume
39
issue
1
pages
107 - 114
publisher
Springer
external identifiers
  • pmid:26335155
  • scopus:84954391264
  • wos:000370351900012
ISSN
0141-8955
DOI
10.1007/s10545-015-9884-y
language
English
LU publication?
yes
id
6eeceaaa-c183-4715-b7ee-e243311cfd73 (old id 8043298)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26335155?dopt=Abstract
date added to LUP
2015-10-04 18:28:06
date last changed
2017-07-02 04:34:31
@article{6eeceaaa-c183-4715-b7ee-e243311cfd73,
  abstract     = {ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) where the genetic defect disrupts the synthesis of the lipid-linked oligosaccharide precursor required for N-glycosylation. The initial step in the investigation for these disorders involves the demonstration of hypoglycosylated serum transferrin (TF). There are no specific biomarkers of this CDG subtype known to date. An LC/MS approach was used to analyze sera from patients with ALG1-CDG, PMM2-CDG, suspected CDG, and individuals with alcohol abuse. We show mass spectrometric data combined with data from enzymatic digestions that suggest the presence of a tetrasaccharide consisting of two N-acetylglucosamines, one galactose, and one sialic acid, appearing on serum TF, is a biomarker of this particular CDG subtype. This is the first time analysis of serum TF can suggest a specific CDG type I subtype and we suggest this tetrasaccharide be used in the clinic to guide the ALG1-CDG diagnostic process.},
  author       = {Bengtson, Per and Ng, Bobby G and Jaeken, Jaak and Matthijs, Gert and Freeze, Hudson H and Eklund, Erik},
  issn         = {0141-8955},
  language     = {eng},
  number       = {1},
  pages        = {107--114},
  publisher    = {Springer},
  series       = {Journal of Inherited Metabolic Disease},
  title        = {Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.},
  url          = {http://dx.doi.org/10.1007/s10545-015-9884-y},
  volume       = {39},
  year         = {2016},
}