Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Definition
Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
Also known as glycogen storage disease caused by mutation in PGK1, glycogen storage disease due to phosphoglycerate kinase 1 deficiency, glycogenosis due to phosphoglycerate kinase 1 deficiency, GSD due to phosphoglycerate kinase 1 deficiency, PGK1 glycogen storage disease, phosphoglycerate kinase 1 deficiency, X-linked recessive, Phosphoglycerate Kinase Deficiency — per MONDO