Feline Pyruvate Kinase Deficiency (PK)
Pyruvate kinase (PK) deficiency is the most frequent abnormality of glycolysis, one of the principal pathways of energy (ATP) generation in cells. In erythrocytes, glycolysis is the only pathway for ATP synthesis since mature red cells lack mitochondria. The disease manifests as a chronic, intermittent, hemolytic anemia. Typically, clinical symptoms include but are not limited to: lethargy, diarrhea, pale mucous membranes, lack of appetite, poor coat quality, weight loss, icterus and occasionally splenomegaly. Blood chemistry may reveal anemia, increased aggregated reticulocyte counts, hyperglobulinaemia, hyperbilirubinaemia, and increased liver enzymes. Severity of clinical presentation and age of onset are variable. Clinical signs can first manifest as early as six months and as late as five years. Some cats die or require euthanization while others maintaine an adequate quality of life.
Feline pyruvate kinase deficiency testing is recommended for several breeds including Bengals, Egyptian Maus, La Perms, Maine Coon cats, Norwegian Forest cats, Savannahs, Siberians, and Singapuras, in addition to Abyssinians and Somalis. Breeds known to have been derived from Abyssinian crosses such as the Ocicat and novel breed development or out-crossing programs using Bengals or other affected breeds should test as well. Future expanded testing will undeniably help prevent breeding affected individuals and possibly allow selective elimination of the feline pyruvate kinase deficiency deficiency associated mutation in domestic cat populations.
Grahn, R.A., Grahn, J.C., Penedo, M.C., Helps, C.R., and Lyons, L.A. (2012). Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats. BMC Veterinary Research 8, 207.