Breeds Affected: Most breeds, including Bengal, Abyssinian, Somali, Maine Coon, Egyptian Maus, La Perm, Norwegian Forest, Savannah, Siberian, Singapura, breeds derived from any of these breeds, and mixes.
Samples Accepted: Blood, Buccal Swabs
Disease Information: Cats affected with Pyruvate Kinase Deficiency (PK) have a chronic hemolytic anemia, the severity of which may vary over time. Symptoms in affected animals may be noticed anytime between 6 months and 5 years of age, and may include lack of appetite, diarrhea, weight loss, lethargy and have poor quality coats. The disease varies in severity; some cats can have a good quality of life, while others may require humane euthanization.
Inheritance Information: PK is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The cat is normal, and cannot produce affected offspring.
N/pk The cat is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/pk carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
pk/pk The cat is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/pk carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/pk x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/pk x N/pk) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (pk/pk) should not be used for breeding.
Test Information: This mutation test identifies a single base change in intron 5 of the PKLR gene.
Giger, U., Rajpurohit, Y., Wang, P., Ford, S., Kohn, B., Patterson, D.F., Beutler, E., Henthorn, P.S.: Molecular basis of erythrocyte pyruvate kinase (R-PK) deficiency in cats Blood 90S:5, 1997.
Grahn, R.A., Grahn, J.C., Penedo, M.C., Helps, C.R., Lyons, L.A.: Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res 8:207, 2012. Pubmed reference: 23110753. Doi: 10.1186/1746-6148-8-207.
Further information is available at the Online Mendelian Inheritance in Animals website.