Pyruvate Kinase Deficiency (PKD)

What is PKD?

PKD is a rare inherited blood disease that affects the red blood cells' ability to produce energy. It occurs due to a mutation in the gene that codes for the enzyme purivat kinase. Lack of this enzyme affects the red blood cells, which cannot function optimally and are destroyed faster than normal, which leads to anemia.

What causes PKD?

PKD is caused by changes (variants or mutations) in the PKLR gene, which lead to a deficiency of the enzyme pyruvate kinase. These variants are inherited in an autosomal recessive manner. Pyruvate kinase is an enzyme that helps cells turn sugar (glucose) into energy in a process called glycolysis. Red cells rely on this process for energy, and so, pyruvate kinase deficiency leads to a deficiency in red blod cell energy and to premature red cell destruction (hemolysis). Instead of lasting 120 days, red cells with PKD last only a few days to weeks. 

What are the symptoms of PKD?

- Anemia
- Swelling of the spleen (splenomegaly)
- Yellow color of the skin and eyes
- Kernicterus (neurologic condition)
- Fatigue
- Lethargy
- Pale skin
- Gallstones