DISEASE SCANNER
Global Incurable Diseases Tracker
Pyruvate Kinase Deficiency
Inherited hemolytic anemia caused by deficiency of the enzyme pyruvate kinase, which is essential for red blood cell energy metabolism. Most common enzyme deficiency in the glycolytic pathway causing hemolytic anemia.
50.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Complete blood count
- 2Peripheral blood smear
- 3Reticulocyte count
- 4Pyruvate kinase enzyme assay
- 5Genetic testing
- 6Osmotic fragility test
Prognosis
Highly variable depending on severity. Mild cases may require only folic acid. Severe cases may need regular transfusions. Splenectomy improves hemoglobin by 1-3 g/dL in 80% of patients. Life expectancy is generally normal with proper management. Iron overload is a long-term concern requiring chelation therapy. Pregnancy possible with monitoring.
Prevention
- Genetic counseling
- Prenatal diagnosis
- Newborn screening (in some regions)
- Family screening
Research Status
Supportive care with folic acid supplementation. Splenectomy improves hemoglobin in many patients. Red cell transfusions for severe cases. Iron chelation for iron overload. Mitapivat (PKR activator) FDA-approved for adults.
Affected Countries
Sources
- https://www.rarediseases.org
- https://www.ncbi.nlm.nih.gov/books/NBK2262
- https://www.hematology.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.