Pyruvate Kinase Deficiency is an inherited autosomal recessive disorder which affects the survival of red blood cells, due to a reduced ability to manufacture ATP in the cell, the cell is unable to maintain its biconcave shape, causing them to break down easily. This leads to anemia and liver failure among affected subjects.

This inherited disease is characterised by signs of anemia, low energy, exercise intolerance, jaundice, yellowing of the white part of the eye, and persistent gallstones. On microscopy there is the presence of prickle cells.

Treatment

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Treatment can include a blood transfusion or removal of the spleen. Treatment is usually effective in reducing the severity of the symptoms, but most canines affected with PK are likely to die between ages 1 and 4.

Diseases