Conditions / Genetic
phosphoglycerate kinase 1 deficiency
info · Genetic
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
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.
Signs and symptoms
- Erythroid hyperplasia
- Hemolytic anemia
- Muscle weakness
- Exercise-induced muscle cramps
- Delayed speech and language development
- Rhabdomyolysis
- Seizure
- Myopathy
- Migraine
- Ataxia
Also known as: GSD due to phosphoglycerate kinase 1 deficiency; PGK1 deficiency; glycogen storage disease due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency