Pyruvate Kinase Deficiency (Pug Type)

General Information: Pyruvate Kinase Deficiency (PKD) in Pugs results from a deficiency in the enzyme pyruvate kinase, crucial for the glycolytic pathway which generates energy in cells. This enzymatic shortfall causes red blood cells to break down prematurely, a condition known as hemolysis. Affected Pugs typically show signs between four months and two years, presenting symptoms such as pale gums due to anemia, lethargy, and a noticeable decrease in exercise tolerance. Diagnostic examinations may reveal significant anemia, skeletal changes, and an enlargement of the liver and spleen. Though some affected dogs may live for several years, the condition often leads to premature death from anemia or liver complications, usually between the ages of five and nine.

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 Pugs focuses on identifying mutations in the PKLR gene, which encodes the enzyme implicated in this condition. PKD is autosomal recessive, requiring a dog to inherit two mutated genes—one from each parent—to exhibit the disease. Carriers, having only one defective gene, typically show no symptoms but can produce affected offspring if bred with another carrier. Each puppy from such matings has a 25% chance of being affected by the disease and a 50% chance of being a carrier. It is crucial for breeders to use reliable genetic testing to guide breeding decisions, avoiding the mating of carriers to prevent the propagation of this disease. Breeding strategies should focus on pairing only non-carriers to ensure healthy offspring. As with all genetic testing, a clear test does not rule out other potential causes for similar symptoms due to different mutations or diseases.