Pyruvate Kinase Deficiency
Pyruvate Kinase (PK) is an enzyme that plays an important role in energy generation and its deficiency impairs the red blood cells' (RBCs) ability to metabolize, which in turn may cause anemia and other blood-related issues.
Breeds more prone to PK deficiency include the basenji, beagle, West Highland white terrier, Cairn terrier, miniature poodle, dachshund, Chihuahua, pug, American Eskimo dogs.
SYMPTOMS AND TYPES
- Muscle wasting
- Jaundice (rare)
- Pale mucous membranes
- Elevated heart rate (tachycardia)
- Inability to perform routine exercises
PK definciency is typically associated with a genetic defect acquired at birth.
You will need to give a thorough history of your dog’s health, including the onset and nature of the symptoms, to your veterinarian. He or she will then perform a complete physical examination, as well a biochemistry profile, urinalysis, and complete blood count (CBC).
Blood testing may reveal an increased number of platelets as well as white blood cells (leukocytosis), anemia with abnormally large, pale red blood cells (RBCs), abnormally-shaped RBCs called poikilocytes (poikilcytosis), and a variation in RBC color (polychromasia). The biochemistry profile, meanwhile, may show an excess of iron in the blood (hyperferremia), mild increase in bilirubin, and slight increase in liver enzymes. Lastly, urinalysis may reveal high levels of bilirubin.
Bone marrow transplantation is the only available treatment for PK deficient dogs. However, this treatment is expensive and potentially life-threatening.
LIVING AND MANAGEMENT
Dogs that undergo a bone marrow transplant may have a normal lifespan. Unfortunately, those that are left untreated will typically die by four years of age as a result of bone marrow or liver failure. Most of these patients develop severe anemia and accumulation of fluid in abdominal cavity (ascites) during the terminal stage of the disease.