Glycosylation Disorders and Congenital Defects
Summary
Glycosylation disorders encompass a spectrum of inherited conditions arising from defects in the assembly, modification or attachment of carbohydrate chains (glycans) to proteins and lipids. These processes, which include N-linked and O-linked glycosylation pathways, are essential for protein folding, cellular signalling, immune recognition and organ development. Disruption of glycosylation pathways can lead to multisystem presentations, with manifestations ranging from developmental delay, intellectual disability and ataxia to skeletal malformations, coagulation anomalies and organ dysfunction. Many congenital disorders of glycosylation (CDGs) exhibit heterogeneous clinical phenotypes even among individuals with the same genetic defect, reflecting complex genotype–phenotype relationships and compensatory mechanisms within glycan biosynthesis. Accurate diagnosis remains challenging owing to variable biochemical signatures and overlapping clinical features; it increasingly relies on a combination of transferrin isoform analysis, mass spectrometry of site-specific glycopeptides and comprehensive genetic sequencing. Therapeutic approaches remain largely supportive, though promising interventions include substrate supplementation, pharmacological chaperones and enzyme replacement strategies. Advances in biomarker discovery, improved understanding of endoplasmic reticulum quality-control mechanisms and the development of novel diagnostic platforms have broadened the landscape of CDG research, emphasising both fundamental biology and translational potential.
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Glycosylation Disorders and Congenital Defects publication trend
The graph below shows the total number of articles in glycosylation disorders and congenital defects across all publications each year (not limited to Nature Index journals).
Technical terms
Glycosylation: Enzymatic attachment and modification of sugar chains to proteins or lipids, critical for structure and function.
Congenital disorders of glycosylation (CDG): A group of inherited metabolic diseases caused by genetic defects in glycan biosynthesis or processing pathways.
Biomarker: A measurable molecular indicator used to detect, diagnose or monitor disease state or therapeutic response.
N-glycosylation: A subtype of glycosylation in which glycans are covalently linked to the nitrogen atom of asparagine residues in proteins.
References
- A liposomal carbohydrate vaccine, adjuvanted with an NKT cell agonist, induces rapid and enhanced immune responses and antibody class switching. Journal of Nanobiotechnology (2023).
- Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. American Journal of Human Genetics (2025).
- A complement C4–derived glycopeptide is a biomarker for PMM2-CDG. JCI Insight (2024).
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