Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

Congenital disorders of glycosylation (CDG, previously called carbohydrate-deficient glycoprotein syndromes, CDGSs), are a group of hereditary multisystem disorders. They are characterized biochemically by hypoglycosylation of glycoproteins, diagnosed by isoelectric focusing (IEF) of serum transferrin. There are two types of CDG, types I and II. Type I CDG has defects in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. Clinical symptoms are dominated by severe psychomotor and mental retardation, as well as blood coagulation abnormalities. B4GALT1-CDG (CDG type IId) is a multisystem disease, characterized by dysmorphic features, hydrocephalus, hypotonia and blood clotting abnormalities.

Summary from Reactome (R-HSA-3656244), read 2026-09-23.