ArticleJournal of inherited metabolic disease2016
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Glycoproteomics and Functional Characterization of Novel Variants in Siblings with ALG1-CDG.Biomolecules · 2026Article
- Integrated glycoproteomics reveals site-specific N-glycosylation defects in phosphomannomutase two congenital disorder of glycosylation.The Journal of biological chemistry · 2026Article
- Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead.Biomedicines · 2025Review
- Article
- Normal transferrin glycosylation does not rule out severe ALG1 deficiency.JIMD reports · 2024Article
- Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker.Frontiers in genetics · 2024Article
- A liposomal carbohydrate vaccine, adjuvanted with an NKT cell agonist, induces rapid and enhanced immune responses and antibody class switching.Journal of nanobiotechnology · 2023Article
- The Swedish COG6-CDG experience and a comprehensive literature review.JIMD reports · 2023Article
- Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.Journal of inherited metabolic disease · 2022Article
- A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.American journal of human genetics · 2021Article
- Article
- Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.Glycoconjugate journal · 2021Article
- ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.Frontiers in genetics · 2021Article
- Recognizable phenotypes in CDG.Journal of inherited metabolic disease · 2018Review
- Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.Molecular genetics and metabolism · 2018Observational
- CDG Therapies: From Bench to Bedside.International journal of molecular sciences · 2018Review
- Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.Orphanet journal of rare diseases · 2018Article
- What is new in CDG?Journal of inherited metabolic disease · 2017Review
- Phenotyping of α-1-Antitrypsin by liquid chromatography-high resolution mass spectrometry.Clinical mass spectrometry (Del Mar, Calif.) · 2016Article
- ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.Human mutation · 2016Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 3 countries.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.