PK-deficiency (Pyruvat Kinase deficiency) is quite recently discovered in Maine Coons as well as a lot of other breeds (Grahn 2012). The illness is known from Abyssinian and Somali, and breeds with ABY/SOM in the lines. The disease is known to cause anemia.
There are preliminary estimates from the PawPeds database that indicate that somewhere between 5-20 % of all Maine Coons might be carriers of this mutation.
Testing for it is very easy, and only animals with “the double gene” (homozygous positive) are affected and can get ill. As long as breeders do not breed carrier to carrier, the animals will stay healthy. All our breeding animals are tested for this mutation.
Pyruvate Kinase deficiency
Affected cats can develop a number of symptoms, but the expression of this illness varies a lot.
The anemia can be intermittent, with the cat showing no symptoms at all except in shorter periods. Some cats can die early, while most live to normal age. “Symptoms of anemia are often diffuse and include exercise intolerance, weakness, pale mucosa of the gums and enlargened spleen.” (PawPeds)
Submit DNA test results to PawPeds!
If you have tested your Maine Coon, please send the results to the PK registrar at PawPeds to be added to the database.
Grahn, A. et al. 2012. “Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats.”
In: BMC Vet Res. 2012; 8: 207.
Berge, Anne M. 2013. “PK-mangel og DNA-testing” In: Aristokatt 2013-2. (In Norwegian)