Catalog

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

No MMS code

Link to WHO Definition

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency – http://id.who.int/icd/entity/1396572570

Phosphoglycerate kinase (PGK) deficiency is an inborn error of metabolism characterised by variable combinations of nonspherocytic haemolytic anaemia, myopathy, and various central nervous system abnormalities.