Pyruvate Kinase Deficiency (Basenji Type)

General Information: Pyruvate Kinase Deficiency (PKD) in Basenjis is characterized by a lack of the enzyme pyruvate kinase, which is crucial for the glycolytic pathway that provides energy to red blood cells. This deficiency leads to the premature destruction of these cells, a condition known as hemolytic anemia. Symptoms typically emerge between four months and two years of age, starting with pale gums, increased fatigue, and reduced exercise capacity. As the condition progresses, affected dogs exhibit more severe clinical signs such as pronounced anemia, bone changes, and significant enlargement of the liver and spleen, which can lead to early mortality from liver failure or complications related to anemia, often by five years of age.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Pyruvate Kinase Deficiency (PKD) in Basenjis focuses on identifying mutations in the PKLR gene, responsible for coding the pyruvate kinase enzyme. This condition is autosomal recessive, meaning that for a dog to be affected by the disease, it must inherit two copies of the mutated gene, one from each parent. Carriers, with only one copy of the mutation, generally do not exhibit symptoms but can pass the defective gene to their offspring. If two carrier dogs are bred, each offspring has a 25% chance of being affected and a 50% chance of becoming a carrier. Responsible breeding practices necessitate genetic testing to prevent breeding carrier dogs together, thereby avoiding the birth of affected puppies. Ensuring that breeding pairs are tested can help eradicate this disease from the Basenji population, as unaffected or non-carrier dogs will not transmit the defective gene to their offspring. A negative test result for this specific mutation does not rule out other potential genetic disorders, underscoring the importance of comprehensive health screenings in breeding programs.