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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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.

Agios is developing a first-in-class pyruvate kinase (PK) activator that may improve the health, energy and lifespan of red blood cells for patients with PK deficiency.

Learn more about our pioneering approach to PK activation and scientific expertise in cellular metabolism.

A pipeline of possibility

Building on our core capabilities in cellular metabolism, we are advancing a robust pipeline focused on genetically defined diseases, including PK deficiency.

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Connected to patients

At the end of the day, we are creating therapies for patients. As the true experts in their disease, their needs, concerns, input and collaboration are critical to our work.

Our Commitment