Pyruvate Kinase Deficiency

Pyruvate kinase deficiency is a rare inherited enzyme deficiency that causes red blood cells to break down prematurely, leading to chronic anemia. New targeted therapies have improved outcomes.

Table of Contents

Quick Facts

  • ICD-10: D55.2
  • Inheritance: Autosomal recessive

Symptoms

  • Fatigue from chronic anemia
  • Jaundice (yellow skin or eyes)
  • Enlarged spleen
  • Gallstones (from chronic bilirubin overload)
  • Iron overload from transfusions
  • Variable severity

Treatment

  • Blood transfusions for severe anemia
  • Folic acid supplementation
  • Iron chelation if iron overload
  • Splenectomy in selected cases
  • Mitapivat (PK activator)
  • Hematopoietic stem cell transplant for severe cases

Related Conditions

Anemia

General topic

 Sickle Cell Disease

Other inherited red cell disorder
Medical Disclaimer: This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider with questions about a medical condition. If you are experiencing a medical emergency, call your local emergency number immediately.

References

  • American Society of Hematology. Hemolytic Anemia Resources.