What is Pyruvate Kinase Deficiency

Pyruvate Kinase Deficiency is a metabolic disease. As explained in the basics about blood, pyruvate kinase is an enzyme that plays an important role in the energy supply of the red blood cells. When there’s a shortage of the enzyme, the red blood cells will have less energy and won’t be able to maintain their vital functions. The outer shell will be damaged and the cells will have abnormal shapes. The red blood cells will be more rigid and will be destroyed more easily in the spleen. The increased destruction of red blood cells will cause a hemolytic anemia.

Since the other body cells don’t rely merely on the anaerobic process for energy production, but can also produce energy from oxygen through aerobic respiration, they will be less affected by the enzyme deficiency. Unlike the red blood cells, the other body cells also have the ability to replace and renew the unstable enzyme. A pyruvate kinase deficiency will therefore primarily affect the red blood cells.

“When someone asks me to explain my disease I just tell them I don’t have enough ‘Pyruvate Kinase’, an enzyme that is needed for the energy production of the red blood cells. That’s why my red blood cells die faster than average and I don’t have enough red blood cells to transport the energy through my body.”
Female, 28 years

Learn more about the effects of PKD.

Disclaimer: This article is written by patients and is meant for basic informational purposes only. It is not intended to serve as medical advice, substitute for a doctor's appointment or to be used for diagnosing or treating a disease. Users of this website are advised to consult with their physician before making any decisions concerning their health. For details see our full disclaimer.
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