Pyruvate Kinase Deficiency
Pyruvate Kinase Deficiency, or PK Deficiency, is the lack of a critical red blood cell enzyme (pyruvate kinase), which regulates the final step in the conversion of glucose to energy. As a result, red blood cells are not able to metabolize the energy required for the cells to function normally, which leads to a change in the cell membranes, a buildup of sodium ions inside the cell, a resulting swelling of the cell (as water molecules follow the buildup of sodium), and an eventual lysing (bursting) of the cell. Furthermore, there is a shortened life span of red blood cells as the abnormal cells are destroyed by the spleen and liver. To make matters worse, PK deficiency, through the changes described above, can shift the normal process by which hemoglobin stores and releases oxygen to body tissues. The end result of these changes produces “hemolytic anemia,” which is a reduction in red blood cells and tissue oxygenation due to the rupture of abnormal red blood cells.
PK Deficiency InheritancePyruvate Kinase Deficiency is an autosomal recessive trait, which means that, for a dog to have PK Deficiency, both parents must be either affected dogs themselves or carriers. Affected dogs will have two copies of the bad gene, while carriers will only have one copy and will not clinically show symptoms, although studies have shown that carriers do have a reduction in normal red blood cell enzyme activity.
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