Pyruvate Kinase Deficiency (Basenji)
Body function: Heart & Blood
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Pyruvate Kinase Deficiency is a genetic metabolic disorder affecting Basenjis. It results from a mutation in the PKLR gene and is autosomal recessive. Pyruvate Kinase Deficiency leads to insufficient activity of the pyruvate kinase enzyme, which helps to break down glycogen for energy. This deficiency primarily affects red blood cells, making them easily damaged.
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