4.1

Congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG) represent a diverse group of over 130 disorders stemming from defects in various stages of glycan biosynthesis and metabolism. Some defects affect only a single glycosylation pathway, while others impact several pathwahys. These disorders often manifest as multi-systemic conditions, including developmental delays, hypotonia, failure to thrive, and coagulopathy. Glycans and glycosylation have both critical biological roles in humans, as many proteins and lipids depend on carbohydrate attachment for their functionality. CDGs can affect N-linked and O-linked protein glycosylation (including glycosaminoglycan synthesis), as well as lipid glycosylation, multiple glycosylation pathways and other mechanisms related to glycan metabolism (dolichol metabolism, Golgi transport and homeostasis, sialic acid metabolism).

4.1.a

Disorders of N-linked protein glycosylation

PMM2-CDG MPI-CDG DPAGT1-CDG ALG13-CDG ALG14-CDG ALG1-CDG ALG2-CDG ALG11-CDG RFT1-CDG ALG3-CDG…
4.1.b

Disorders of O-linked protein glycosylation

Disorders of O-mannosylation POMT1-CDG (Muscular dystrophy-dystroglycanopathy type A1, severe); MDDGB1,…
4.1.c

Disorders of lipid glycosylation

Disorders of glycosylphosphatidylinositol biosynthesis PIGA-CDG (Multiple congenital anomalies-hypotonia-seizures syndrome type…
4.1.d

Disorders of multiple glycosylation pathways

Disorders of dolichol metabolism DHDDS-CDG NUS1-CDG SRD5A3-CDG DOLK-CDG DPM1-CDG DPM2-CDG…
4.1.e

Other disorders of glycan metabolism

N-glycanase 1 deficiency NGLY1-CDDG

Subnetworks

CDG 1 1

CDG

Congenital disorders of glycosylation and disorders of intracellular trafficking

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