Defective PGM1 causes PGM1-CDG

Phosphoglucomutases 1 and 2 (PGM1, 2) are involved in the cytosolic biosynthesis of nucleotide sugars needed for glycan biosynthesis, specifically, the isomerisation of glucose-6-phosphate (G6P) into glucose-1-phosphate (G1P). Defects in PGM1 can cause congenital disorder of glycosylation 1t (CDG1t, now known as PGM1-CDG; MIM:614921), a broad spectrum disorder characterised by under-glycosylated serum glycoproteins. CDGs result in a wide variety of clinical features such as defects in nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency.

Summary from Reactome (R-HSA-5609974), read 2026-09-23.