Pyruvate kinase deficiency (PK) is a hereditary hemolytic anemia that affects both purebred and domestic cats. It is a genetic condition in which red blood cells break down faster than normal due to a shortage of the enzyme pyruvate kinase (PK). This disruption of PK leads to a reduction in erythrocyte lifespan, causing anemia.

In purebred cats, symptoms may include extreme fatigue, weakness, weight loss, abdominal swelling, and jaundice. Domestic cats with PK also experience chronic, intermittent hemolytic anemia, with symptoms such as lethargy, diarrhea, pale mucous membranes, lack of appetite, poor coat quality, icterus, weight loss, and occasionally splenomegaly. While the disease is present at birth, clinical signs typically do not manifest immediately. Symptoms usually emerge between 6 months and 3 years of age.

Inheritance: autosomal recessive - read more

Mutation: PKLR gene

References (OMIA): https://www.omia.org/OMIA000844/9685/

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.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.