Term Name:	phosphoglycerate kinase 1 deficiency
Synonyms:	glycogen storage disease due to phosphoglycerate kinase 1 deficiency, glycogenosis due to phosphoglycerate kinase 1 deficiency, GSD due to phosphoglycerate kinase 1 deficiency, PGK1 deficiency
Definition:	A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1.
Ontology:	Human Disease [DOID:0111933]   ( DOID:0111933 )