PYRUVATE KINASE DEFICIENCY
WHAT IS ERYTHROCYTE PYRUVATE KINASE DEFICIENCY (PK Def)?
Erythrocyte Pyruvate Kinase Deficiency or PK Deficiency is the insufficiency of a regulatory enzyme and loss of red blood cells, resulting in hemolytic anemia. Symptoms of this anemia can include: severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. This condition is inherited as an autosomal recessive.
Carriers are otherwise healthy but if bred with another carrier will produce offspring with the deficiency.
There are genetic screenings for PK Deficiency that is quick and easy to obtain with blood tests or cheek swabs. Responsible breeders will have their breeding cats tested and provide the test results.
Erythrocyte pyruvate kinase deficiency (PK Deficiency). (n.d.). UC Davis Veterinary Medicine Veterinary Genetics Laboratory. Retrieved from
Grahn, R. A., Grahn, J. C., Penedo, M. C., Helps, C. R., & Lyons, L. A. (2012). Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats. BMC Veterinary Research 8, 207.