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Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
Features include always present findings: Erythroid hyperplasia, Red blood cell destruction (hemolytic anemia), Muscle weakness, and Exercise-induced muscle cramps; and common findings: Intellectual disability. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 8 | Delayed speech and language development, Seizure, Migraine |
Muscles | 4 | Rhabdomyolysis, Myopathy, Muscle weakness |
Blood and immune system | 2 | Red blood cell destruction (hemolytic anemia), Increased immature red blood cells (reticulocytosis) |
Kidneys and urinary system | 1 | Reduced kidney function (renal insufficiency) |
Eyes | 1 | Retinal dystrophy |
PGK1 function has not been fully characterized.
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency is associated with mutations in the PGK1 gene on chromosome X.
Genetic testing for PGK1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for glycogen storage disease due to phosphoglycerate kinase 1 deficiency.
7 publications have been identified in PubMed for glycogen storage disease due to phosphoglycerate kinase 1 deficiency. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (29%), and Basic Science / Preclinical (29%).
Zhu XX (2026). [PMID: 41732856](https://pubmed.ncbi.nlm.nih.gov/41732856/). *Circ Res*. [Basic Science / Preclinical]
Nandeesh BN (2025). [PMID: 39787833](https://pubmed.ncbi.nlm.nih.gov/39787833/). *Stem cell research*. [Basic Science / Preclinical]
Hierholzer A (2025). [PMID: 40026287](https://pubmed.ncbi.nlm.nih.gov/40026287/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Pokotylo M (2025). [PMID: 40681352](https://pubmed.ncbi.nlm.nih.gov/40681352/). *Aging Dis*. [Review / Meta-Analysis]
Koch RL (2025). [PMID: 41213961](https://pubmed.ncbi.nlm.nih.gov/41213961/). *NPJ Genom Med*. [Other]
Mishra K (2024). [PMID: 39334863](https://pubmed.ncbi.nlm.nih.gov/39334863/). *Biomolecules*. [Review / Meta-Analysis]
Zhou X (2024). [PMID: 38432079](https://pubmed.ncbi.nlm.nih.gov/38432079/). *Seizure*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:37 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center