/glycogen storage disease due to phosphoglycerate kinase 1 deficiency

glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Rare Disease

MONDO:0010392

Also Known As

GSD due to phosphoglycerate kinase 1 deficiencyPGK1 glycogen storage diseasePhosphoglycerate Kinase Deficiencyglycogen storage disease caused by mutation in PGK1glycogen storage disease due to phosphoglycerate kinase 1 deficiencyglycogenosis due to phosphoglycerate kinase 1 deficiencyphosphoglycerate kinase 1 deficiency, X-linked recessivePGK deficiencyPHOSPHOGLYCERATE KINASE 1 deficiencyPgk1 deficiencyPhosphoglycerate kinase 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.