Pyruvate Kinase Deficiency (PKD) is an inherited metabolic disorder caused by the absence of pyruvate kinase in red blood cells, which affects their survival. Pyruvate kinase is an enzyme responsible for glycolysis and cell energy production in erythrocytes. A deficiency in pyruvate kinase results in decreased red blood cell energy levels, which can lead to cell death. Red blood cells deliver oxygen to tissues around the body. Affected dogs are unable to maintain adequate supply of red blood cells and they suffer from chronical anemia.
Symptoms of PKD usually begin to show four months to one year after birth and include weakness, lack of energy, rapid heart rate, heart murmurs, pale gums, and stunted growth. As the disease progresses, bones and the liver can be affected, and the disease is ultimately fatal. Dogs with PKD commonly die before 4 years of age.
Inheritance: autosomal recessive - read more
Mutation: PK-LR gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.