Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency)

Quick Summary

Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia caused by insufficient activity of its namesake regulatory enzyme.
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Phenotype: Cats affected by PK deficiency develop anemia. 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.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, K = PK deficiency

Breeds appropriate for testing: Abyssinian, Australian Mist, Bengal, Domestic Shorthair and Longhair, Egyptian Mau, La Perm, Maine Coon, Norwegian Forest, Savannah, Siberian, Singapura, Somali, Toyger

Explanation of Results:

  • Cats with N/N genotype will not have PK deficiency. They cannot transmit this PK deficiency variant to their offspring.
  • Cats with N/K genotype will not have PK deficiency, but are carriers. They will transmit this PK deficiency variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% PK deficiency-affected kittens.
  • Cats with K/K genotype will have PK deficiency; severity of symptoms cannot be predicted and may be variable. They will transmit this PK deficiency variant to all of their offspring.

Price

$44 one test per animal

Also available as part of the following packages:

Turnaround Time
At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested.
Additional Details

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.

Testing for PK deficiency assists owners and breeders in identifying affected and carrier cats. Breeders can use this test as a tool to avoid breeding carriers together, which would produce 25% affected offspring.

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.

Type of Sample
Cotton Swab

Species

Cat

Breed

Abyssinian Australian Mist Bengal Domestic Longhair Domestic Shorthair Egyptian Mau La Perm Maine Coon Norwegian Forest Cat Savannah Cat Siberian Cat Singapura Somali Toyger
Type of Test
Health
Results Reported As
Test Result PK deficiency status
N/N No copies of PK deficiency mutation. Cat is normal.
N/K 1 copy of PK deficiency mutation. Cat is normal but is a carrier.
K/K 2 copies of PK deficiency mutation. Cat is or will be affected. Severity of symptoms cannot be predicted.
References

Grahn, R.A., Grahn, J.C., Penedo, M.C.T., Helps, C.R., & Lyons, L.A. (2012). Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Veterinary Research, 8, 207. doi: 10.1186/1746-6148-8-207

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