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.

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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Know PK deficiency

Whether you’ve recently been diagnosed or have been living with PK deficiency for years, learning as much as you can is important.

Connecting the dots in PK deficiency

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.

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