Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/8043298
- author
- Bengtson, Per LU ; Ng, Bobby G ; Jaeken, Jaak ; Matthijs, Gert ; Freeze, Hudson H and Eklund, Erik LU
- organization
- publishing date
- 2016
- 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
- pmid:26335155
- 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
- 2016-04-04 08:19:33
- date last changed
- 2022-04-23 17:16:27
@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}}, doi = {{10.1007/s10545-015-9884-y}}, volume = {{39}}, year = {{2016}}, }