Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead

Congenital disorders of glycosylation (CDG) are a group of rare, multisystemic genetic diseases caused by defects in glycan biosynthesis and protein glycosylation. Their broad clinical and genetic heterogeneity often require advanced diagnostic strategies. Clinical glycomics and glycoproteomics have emerged as powerful tools for understanding and diagnosing CDG by enabling high-resolution analysis of glycan structures and glycoproteins. Advancements in high-throughput mass spectrometry (MS) and site-specific glycoproteomics have led to the identification of disease-relevant biomarkers, providing insight into underlying glycosylation defects.