Pyruvate Kinase Deficiency in Dogs

Canines who have pyruvate kinase deficiency suffer from anemia because the lifespan of their red blood cells is minimized due to a lack of energy required for cell maintenance. A dog with this disease usually presents with symptoms between the ages of four months and one-year-old. Studies show that breeds that have shown to be affected by this deficiency are the Dachshund, Basenji, West Highland White Terrier, Cairn Terrier, Beagle and the American Eskimo Dog.

Dogs who are normally inactive may not present obvious symptoms until a crisis point is reached, usually after a period of high exertion or stress. Other canines affected with PK deficiency will exhibit slow growth, low tolerance to physical activity and exercise, lack of energy, and general weakness.

This disease is inherited and is an autosomal recessive trait. This trait means that both parents must be carriers of the gene that causes pyruvate kinase deficiency. Because inactive dogs may not show obvious signs of the condition, and carriers may be asymptomatic, it is recommended to test for PK deficiency before breeding.

If you are noticing lethargy or other signs of unwell behavior in your pet, it is always recommended to take them to the veterinarian. Upon discussion of the symptoms you have noted, the veterinarian will do a physical exam. Pale mucous membranes will alert her to do a blood test for anemia. Further clinical findings in dogs with PK deficiency are an increased heart rate and pulse. An ultrasound may show an enlarged liver and spleen, while x-rays could indicate higher than average density in the bones. If the veterinarian suspects pyruvate kinase deficiency, she may choose to take a buccal swab, blood test or dewclaw sample to send to a genetics lab for DNA testing, which will confirm the diagnosis.

There is no known cure for PK deficiency at present. Bone marrow transplants, to correct the changes in the bones found as the disease progresses, are in the experimental stage only. Some breeds known to be affected by this inherited disease may live longer than other affected breeds. However, dogs with pyruvate kinase deficiency typically die by four years of age. With continued studies in place to hopefully one day find a cure, palliative care is now the only option available.

Your dog can live a relatively comfortable life with pyruvate kinase deficiency, but unfortunately chronic anemia, progressive liver damage and possible bone marrow failure (as the bone marrow eventually becomes replaced with fibrous tissue) are inevitable. It is hoped that with responsible breeding, the genes that are known in certain breeds (along with those yet to be discovered) to cause the disease, will eventually be wiped out.