Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency) is an inherited hemolytic anemia caused by insufficient activity of this regulatory enzyme which results in instability and loss of red blood cells. The anemia is intermittent, the age of onset is variable and clinical signs are also variable. Symptoms of this anemia can include: severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. This condition is inherited as an autosomal recessive.
Based on a survey of 38 breeds, the mutation responsible for PK deficiency has been found in significant frequency in Abyssinian, Bengal, Domestic Shorthair and Longhair, Egyptian Mau, La Perm, Maine Coon, Norwegian Forest, Savannah, Siberian, Singapura and Somali. Cats of these breeds are at higher risk of having PK deficiency or producing affected offspring; genetic screening for the mutation is recommended. A few breeds showed very low frequency of the mutation (less than 0.2%) and are low risk: Exotic Shorthair, Oriental Shorthair and Persian.
The VGL offers a DNA test for PK deficiency to assist owners and breeders in identifying affected and carrier cats. The test uses DNA collected from buccal swabs avoiding invasive blood collection. Breeders can use this test as a tool to avoid breeding carriers together which would produce 25% affected offspring.
Results are reported as:
|Test Result||PK deficiency status|
|N/N||no copies of PK deficiency, cat is normal|
|N/K||1 copy of PK deficiency, cat is normal but is a carrier.|
|K/K||2 copies of PK deficiency, cat is or will be affected. Severity of symptoms cannot be predicted.|
Grahn RA, Grahn JC, Penedo MCT, Helps CR, Lyons LA. Erythrocyte Pyruvate Kinase Deficiency Mutation Identified in Multiple Breeds of Domestic Cats. BMC Veterinary Medicine 2012 (in press).