Confirming Pyruvate Kinase (PK) deficiency diagnosis
About PK Deficiency

PK deficiency is a hereditary (autosomal recessive) cause of hemolytic anemia, resulting from insufficient activity of the enzyme pyruvate kinase (PK). Pyruvate kinase is important for the survival of red blood cells (RBC).1,2

As with many rare diseases, the prevalence of PK deficiency is not well understood. Current estimates have been cited at approximately 1:20,000 to 1:485,000.1,3,5 PK deficiency is, however, the most common disorder of glycolysis responsible for hereditary non-spherocytic hemolytic anemia.2,6

PK deficiency disease presentation is highly variable
PK deficiency disease presentation is highly variable

PK deficiency is a hereditary (autosomal recessive) cause of hemolytic anemia, resulting from insufficient activity of the enzyme pyruvate kinase (PK). Pyruvate kinase is important for the survival of red blood cells (RBC).1,2

As with many rare diseases, the prevalence of PK deficiency is not well understood. Current estimates have been cited at approximately 1:20,000 to 1:485,000.1,4,7 PK deficiency is, however, the most common disorder of glycolysis responsible for hereditary non-spherocytic hemolytic anemia.2

Patients with PK deficiency may experience many symptoms
Patients with PK Deficiency may experience:

Anemia
Fatigue and Weakness
Dyspnea
Exercise Intolerance
Iron Overload
Jaundice
Scleral Icturus
Abdominal Pain
Splenomegaly
Gallstones

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Burden of Disease and Management

Although our understanding of PK deficiency has advanced greatly over the past 50 years, treatment is still focused on supportive care and has changed little over this time.2 Until a disease-specific therapy is available, treatment for PK deficiency remains supportive.2

Complications of PK deficiency and its treatment can adversely impact patients' quality of life.3,6,7

Routine RBC transfusions, iron chelation therapy, and splenectomy are common treatment strategies, and may directly or indirectly impact health-related quality of life.2,8,9

Watch the PK deficiency disease mechanism video
Insufficient pyruvate kinase activity leads to decreased ATP generation, shortened red blood cell lifespan, and chronic hemolysis.2,3
Watch the PK deficiency disease mechanism video
Insufficient pyruvate kinase activity leads to decreased ATP generation, shortened red blood cell lifespan, and chronic hemolysis.2,3
View a brief interview with Dr. Richard van Wijk
View a brief interview with Dr. Kevin Kuo
Hear from Dr. Richard van Wijk

View a brief interview with Dr. Richard van Wijk
on his experience diagnosing PK deficiency.

Listen to Dr. Kevin Kuo

Join us in a conversation with Dr. Kevin Kuo about the current state of PK deficiency disease management.

Hear from Dr. Richard van Wijk

View a brief interview with Dr. Richard van Wijk
on his experience diagnosing PK Deficiency.

Listen to Dr. Kevin Kuo

Join us in a conversation with Dr. Kevin Kuo about the current state of PK deficiency disease management.

Want to know more?
Download an Info Sheet on PK deficiency.
Do you suspect PK deficiency in a patient?
Learn more about diagnosis.
Want to know more?
Download an Info Sheet on PK deficiency.
Do you suspect PK deficiency in a patient?
Learn more about diagnosis.

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Reference Material for Pyruvate Kinase (PK) deficiency
References
  1. Hirono A, Kanno H, Miwa S, Beutler E. Chapter 182: Pyruvate Kinase Deficiency and Other Enzymopathies of the Erythrocyte. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2014. http://ommbid.mhmedical.com/content.aspx?sectionid=62652268&bookid=971&Resultclick=2. Accessed October 21, 2016.
  2. Grace RF, Zanella A, Neufeld EJ, Morton DH, Eber S, Yaish H, Glader B. Erythrocyte Pyruvate Kinase Deficiency: 2015 Status Report. Am J Hematol. 2015;90(9):825-30.
  3. Zanella A, Fermo E, Bianchi P, Chiarelli LR, Valentini G. Pyruvate kinase deficiency: the genotype- phenotype association. Blood Reviews 2007: 21; 217–231.
  4. Carey PJ, Chandler J, Hendrick A, Reid MM, Saunders PW, Tinegate H, Taylor PR, West N. Prevalence of pyruvate kinase deficiency in a northern European population in the north of England. Blood 2000;96(12):4005-6.
  5. Beutler E and Gelbart T. Estimating the prevalence of pyruvate kinase deficiency in the general white population. Blood 2000;95:3585-8.
  6. Pyruvate Kinase Deficiency. Genetics Home Reference, US National Library of Medicine. https://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency. Accessed April 24, 2017.
  7. Le K, et al. Blood 2015: 126;3336.
  8. Abetz L, et al. Health Qual Life Outcomes. 2006;4:73.
  9. Constantinou K. Open J Hematol 2012;3:1-5.