PK deficiency is caused by an inherited mutation in the PKLR gene, which can cause a deficit in energy within the red blood cell, as evidenced by lower PK enzyme activity, a decline in levels of adenosine triphosphate (ATP), which is responsible for storing and transferring energy in cells, and a build-up of certain metabolites.
Understanding Pyruvate Kinase Deficiency
What is pyruvate kinase deficiency?
Pyruvate kinase (PK) deficiency is a rare disease caused by inherited mutations in the PKLR gene, which can cause a deficit in energy and shortened lifespan for red blood cells. People with PK deficiency can experience a range of signs and symptoms, including anemia, debilitating fatigue, exercise intolerance, jaundice, memory loss and difficulty concentrating. Current management strategies for PK deficiency include red blood cell transfusions and splenectomy, which are associated with both short- and long-term risks.
There are no currently approved therapies for PK deficiency.
To understand more about PK deficiency, watch this video featuring Tamara and her journey with PK deficiency as well as insights from Dr. Hanny Al-Samkari.
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