Pyruvate Kinase Deficiency (PKDef)

Quick Summary

Pyruvate kinase deficiency (PKDef) is an inherited hemolytic anemia caused by a defect in the enzyme pyruvate kinase. Signs in affected dogs may include lack of energy and fatigue in dogs that appear otherwise fit.
Search Keywords
PK Deficiency
pkdef
pk-deficiency

Phenotype: Observable signs in affected dogs may include lack of energy, low exercise tolerance and fatigue in dogs that appear otherwise fit. Clinically, dogs with PKDef present with a severe anemia, increased iron levels, increased bone density, may have an enlarged spleen and liver as well as fibrous connective tissue replacement of bone marrow cells. Bone marrow and liver failure typically occur by 5 years of age.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, K = Pyruvate kinase deficiency

Breeds appropriate for testing: Beagle, Cairn Terrier, Pug, West Highland White Terrier

Explanation of Results:

  • Dogs with N/N genotype will not have pyruvate kinase deficiency and cannot transmit this variant to their offspring.
  • Dogs with N/K genotype are not expected to show signs of pyruvate kinase deficiency but have half the normal level of pyruvate kinase activity, and are carriers. They may transmit this variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% pyruvate kinase deficiency-affected puppies.
  • Dogs with K/K genotype will have pyruvate kinase deficiency.

Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)

Price

$50 one test per animal
$30 as additional test (same animal)

$70 Susceptibility to Pug Dog Encephalitis (PDE) + Pyruvate Kinase Deficiency (PKDef) (both tests on same animal - Pug only)

Panels Available
Additional Details

Pyruvate kinase deficiency (PKDef) is an inherited hemolytic anemia caused by a defect in the enzyme pyruvate kinase. Loss of function of this enzyme results in premature death of red blood cells. Affected dogs do not have sufficient quantities of red blood cells to adequately supply the body with oxygen. Observable signs in affected dogs may include lack of energy, low exercise tolerance and fatigue in dogs that appear otherwise fit. Clinically, dogs with PKDef present with a severe anemia, increased iron levels, increased bone density, may have an enlarged spleen and liver as well as fibrous connective tissue replacement of bone marrow cells. Bone marrow and liver failure typically occur by 5 years of age. The disease is inherited as an autosomal recessive disorder thus both sexes are equally affected and two copies of the defective gene must be present for dogs to be affected. Carrier dogs, those with one defective and one normal copy, show no signs but have half the normal level of pyruvate kinase activity. Breeding two carriers is expected to produce 25% affected offspring and 50% carriers of the disease.

Different breed-specific mutations in the Pyruvate Kinase gene have been identified. Testing for the PKDef mutations found in Beagle, Pug, and West Highland White Terrier breeds can assist owners and breeders in identifying affected and carrier dogs. Breeders can use results from the test as a tool for selection of mating pairs to avoid producing affected dogs.

Note: This test does not detect the PKDef mutation that causes a similar disease in Labrador Retrievers. A separate test for Labrador Retrievers is available through the VGL.
Turnaround Time
3-6 business days

Species

Dog

Type of Test

Results Reported As
Test Result Pyruvate Kinase Deficiency
N/N No copies of the PKDef mutation. Dog is normal.
N/K 1 copy of the PKDef mutation. Dog is a carrier and unaffected but has half the normal Pyruvate Kinase activity of N/N dogs.
K/K 2 copies of the PKDef mutation. Dog is affected.
References

Chapman, B.L., & Giger, U. (1990). Inherited erythrocyte pyruvate kinase deficiency in the West Highland White Terrier. Journal of Small Animal Practice, 31, 610-616.

Schaer, M., Harvey, J.W., Calderwood-Mays, M., & Giger, U. (1992). Pyruvate kinase deficiency causing hemolytic anemia with secondary hemochromatosis in a Cairn Terrier. Journal of the American Animal Hospital Association, 28(3), 233-239.

Skelly, B.J., Wallace, M., Rajpurohit, Y., Wang, P., & Giger, U. (1999). Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. American Journal of Veterinary Research, 60(9), 1169-1172. PMID: 10490091

Gultekin, G.I., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O., & Giger, U. (2012). Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs. Journal of Veterinary Internal Medicine, 26(4), 935-944. doi: 10.1111/j.1939-1676.2012.00958.x