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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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Basenji

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What does this mean for a dog with this trait?

Supportive care is the only "treatment" for Pyruvate Kinase Deficiency at this time. Regular vet checks can help monitor anemia levels and organ function. While there's no cure for Pyruvate Kinase Deficiency, proper management can improve the dog's quality of life. However, due to the progressive nature of the disease, owners should be prepared for the possibility of a shortened lifespan.

Symptoms

The symptoms of Pyruvate Kinase Deficiency typically begin to manifest between 4 months and 2 years of age. Affected dogs may have pale gums due to decreased red blood cell count, lethargy, and exercise intolerance. As the disease progresses, dogs may show signs of severe anemia, including weakness and shortness of breath. Veterinary examinations may find hardening of the bones and enlargement of the spleen and liver. The prognosis for dogs with Pyruvate Kinase Deficiency is generally poor. Most dogs will succumb to anemia or liver failure by around 5 years of age.

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