Pyruvate Kinase Deficiency (Terrier Type)

General Information: Pyruvate Kinase Deficiency (PKD) in terriers impairs the red blood cells' ability to metabolize energy properly, leading to their premature breakdown—a condition known as hemolytic anemia. Symptoms usually appear between four months and one year of age and include pale gums, lethargy, and reduced tolerance for exercise. Diagnosed dogs may exhibit severe anemia, liver and spleen enlargement, and bone abnormalities. These symptoms can significantly reduce quality of life, and while some affected dogs manage to survive for years, they often succumb to complications related to severe anemia or liver failure by the age of five.

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 terriers focuses on identifying mutations in the PKLR gene, which is crucial for proper red blood cell function. The disease is autosomal recessive, meaning that a dog must inherit two copies of the mutated gene—one from each parent—to exhibit symptoms. Carriers of one copy do not show symptoms but can pass the defective gene to their offspring. If two carriers are bred, there is a 25% chance that each puppy will inherit the disease and a 50% chance that they will be carriers. Responsible breeding practices, supported by reliable genetic testing, are essential to prevent the propagation of this condition. Breeders are advised against mating two carriers to avoid producing affected offspring. Dogs that do not carry the mutation are at no increased risk of having affected puppies. It is important to note that a clear result from this test does not rule out other genetic conditions that may cause similar symptoms.