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Pyruvate Kinase Deficiency (Discovered in the Pug)

Pyruvate Kinase Deficiency (PKD) is a disorder that causes anemia due to the breakdown of red blood cells.

Key Signs

Anemia, Drowsiness, Pale mucous membranes, Enlargement of the spleen and liver, Osteosclerosis, Myelofibrosis

Age of Onset

0 to 2 yrs

Juvenile onset

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with PKD

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about PKD

Pyruvate kinase (PK) is an enzyme needed for normal energy production by the red blood cells. PK deficiency affects the life span of erythrocytes (red blood cells) that break down particularly easily, which results in hemolytic anemia. Clinical signs include reduced exercise tolerance, weakness, pale mucous membranes, slowed growth, and a heart murmur. Accumulation of iron released from red blood cells damages the liver and bone marrow, resulting in liver failure and abnormal bone density. The disease leads to the death of the affected dog, usually at less than 5 years of age.

Therapy is limited to symptomatic treatments and general supportive care. There is no cure.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the PKD mutation can be safely bred with a clear dog with no copies of the PKD mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the PKD mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the PKD mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene PKLR
Variant T>C
Chromosome 7
Coordinate 42,268,681

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Giger, U., & Noble, N. A. (1991). Determination of erythrocyte pyruvate kinase deficiency in Basenjis with chronic hemolytic anemia. Journal of the American Veterinary Medical Association. (10):1755-61. View the article

Inal Gultekin, G., 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. View the article

Searcy, G. P., Miller, D. R., & Tasker, J. B. (1971). Congenital hemolytic anemia in the Basenji dog due to erythrocyte pyruvate kinase deficiency. Canadian Journal of Comparative Medicine. 35(1): 67–70. View the article

Skelly, B. J., Wallace, M., Rajpurohit, Y. R., 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) pp: 1169-1172 View the article

Whitney, K. M., & Lothrop, C. D. (1995). Genetic test for pyruvate kinase deficiency of Basenjis. Journal of the American Veterinary Medical Association. 207(7):918-21. View the article