- Cairn Terrier
- Labrador Retriever
- West Highland White Terrier
PK - Pyruvate Kinase Deficiency
Pyruvate kinase (PK) deficiency is an inherited lack of an enzyme (pyruvate kinase) in the red blood cells of an affected animal. This enzyme is required for red blood cells to survive for a normal length of time in the blood of the animal, and when it is missing, the red blood cells break down and are destroyed prematurely. This leads to lifelong anemia in the affected animal. The symptoms of anemia are lack of energy, low exercise tolerance, easy fatiguability, and probably reduced fertility.
This disease is inherited as an autosomal recessive. This means that affected animals have two doses of the mutant gene. Dogs that have one mutant and one normal gene are called carriers. Carriers are not ill (they do not have anemia), but can produce affected offspring if mated to another carrier.
The test that we offer for Labrador Retrievers is based on research from the University of Pennsylvania which identified a mutation that causes autosomal recessively inherited pyruvic kinase deficiency in this breed. Animals with two copies of the mutation usually exhibit severe recurrent anemia.