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.

Synonyms

glycogen storage disease due to phosphoglycerate kinase 1 deficiency
glycogenosis due to phosphoglycerate kinase 1 deficiency

Cross References

Parent Terms

Child Terms

None

Sources of Associations

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phosphoglycerate kinase 1 deficiency

phosphoglycerate kinase 1 deficiency

Associated Genes

Associated Alleles

Associated Models