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

Journal of Inherited Metabolic Disease
Per BengtsonErik A Eklund

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.

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Citations

May 10, 2017·Journal of Inherited Metabolic Disease·Jaak Jaeken, Romain Péanne
Apr 15, 2018·Journal of Inherited Metabolic Disease·Carlos R FerreiraEva Morava
Apr 28, 2018·International Journal of Molecular Sciences·Sandra BrasilVanessa Dos Reis Ferreira
Jan 13, 2018·Orphanet Journal of Rare Diseases·Pietro VajroErik A Eklund
Nov 3, 2020·Glycobiology·Ken HanzawaYasuhide Miyamoto
Mar 2, 2021·Glycoconjugate Journal·Gabriela Magali PapazogluCarla Gabriela Asteggiano

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