PGM1-CDG is an autosomal recessive disorder caused by pathogenic variants in PGM1 gene, coding for PGM1 enzyme. PGM1 enzyme converts glucose-6-P into glucose-1-P and is therefore directly linked to glycolysis, glycogenolysis and glycogen synthesis. At first, PGM1 deficiency was characterized as glycogen storage disorder, however, it was later found that patients affected by this disorder also present with glycosylation abnormalities. PGM1 deficiency was then reclassified as a congenital disorder of glycosylation (PGM1-CDG).
PGM1