What Is Pyruvate Kinase Deficiency?

by Ripa Ajmera

Overview

Pyruvate kinase deficiency is a disorder that involves inheriting a shortage of the pyruvate kinase enzyme, which is used by red blood cells. Without this enzyme, red blood cells disintegrate easily, causing anemia.
Causes

Pyruvate kinase deficiency occurs when a child receives an autosomal recessive trait, meaning a recessive gene is required from both parents to develop the disorder.

Symptoms

Symptoms of pyruvate kinase deficiency include anemia, fatigue, recurring gallstones, pale skin, jaundice and yellow eyes.
Treatment

People who have severe anemia might need blood transfusions to treat this disease. Splenectomy (removal of your spleen) might also help decrease destruction of your red blood cells.
Considerations

Treatment outcomes for pyruvate kinase deficiency vary. Proper treatment usually mitigates your symptoms, however. If you plan to have a child, you should be tested to find out whether you have pyruvate kinase deficiency.
Prevention/Solution

If you and your spouse are both diagnosed with this disorder, genetic counseling can help you make an informed decision regarding pregnancy and its outcomes. If the fetus of a pregnant woman has the disorder, genetic counseling can help you prepare to take proper care of your infant.