glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Findings
No curated finding names glycogen storage disease due to phosphoglycerate kinase 1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0010392), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Erythroid hyperplasiaHPOHP:0012132
- 1 of 1 reported patient
- Exercise-induced muscle crampsHPOHP:0003710
- 1 of 1 reported patient
- Hemolytic anemiaHPOHP:0001878
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Abnormal nervous system physiologyHPOHP:0012638
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
Show the remaining 11
- Intellectual disabilityHPOHP:0001249
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- MigraineHPOHP:0002076
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- MyoglobinuriaHPOHP:0002913
- Frequent (30% to 79% of cases)
- MyopathyHPOHP:0003198
- Frequent (30% to 79% of cases)
- ReticulocytosisHPOHP:0001923
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PGK1HGNC:8896
- Definitive · G2P · X-linked · 2017
- Definitive · Natera · X-linked recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2018
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Also called
- glycogen storage disease caused by mutation in PGK1glycogenosis due to phosphoglycerate kinase 1 deficiencyGSD due to phosphoglycerate kinase 1 deficiencyPGK1 glycogen storage diseasephosphoglycerate kinase 1 deficiency, X-linked recessivePhosphoglycerate Kinase Deficiency