Pyruvate Kinase Deficiency (PK) - West Highland White Terrier

Canine pyruvate kinase deficiency (PK deficiency) is an autosomal recessive disorder of cardiovascular system. Pyruvate kinase (PK) is essential for glycolysis in erythrocytes, which deliver oxygen to tissues. PK deficiency results in erythrocytes with decreased energy, in such ATP needed for energy cannot be synthesized, and cellular death occurs. The symptoms occur between 4 months and 1 year of age and include severe haemolytic anaemia, hemosiderosis (excessive iron in tissues), slow growth, low tolerance to physical activity and exercise, lack of energy, fatigue and general weakness. Dogs affected with PK deficiency are usually euthanized upon diagnosis by the age of four as a result of bone marrow failure and/or liver disease.

Inheritance: autosomal recessive

Mutation: PKLR gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.