phosphoglycerate kinase 1 deficiency

Term ID

DOID:0111933

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. (3)

References

• GARD:7389
• MESH:C567067
• NCI:C126738
• OMIM:300653
• ORDO:713
• UMLS_CUI:C1970848

Ontology

Human Disease   ( DOID:0111933 )