Pyruvate Kinase Deficiency

Below you will find more information about Pyruvate Kinase Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of Pyruvate Kinase Deficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Pyruvate Kinase Deficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Pyruvate Kinase Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Pyruvate kinase deficiency (PKD) is a common enzymatic disorder of the erythrocyte. It involves hematologic abnormalities leading to hemolytic anemia. When not treated, PKD can result to death due to anemia.


Laboratory studies and blood tests are conducted to diagnose PKD. Biopsies on pregnant women are also done to detect the onset of the disease. Imaging studies are as well held to check on how the disease has affected the bloodstream.


Treatment for the disorder is by supplementing the pyruvate kinase enzyme on the blood. A bone marrow transplant may be required to address the need. Surgical operation such as splenectomy can also be done on severe cases, as well as blood transfusion if severe anemia has already taken place.

Symptoms and Signs

The symptoms of PKD include anemia, jaundice, slow development of body organs, as well as abnormal eye movements.


PKD is caused by genetic defects in the pyruvate kinase gene. Once this gene becomes defective, enhanced oxygen delivery occurs, causing an overdose of the mineral. Oxygen would no longer be processed properly to feed on the needs of body organs, thus resulting to anemia. Preexisting medical conditions such as leukemia can also trigger PKD.

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