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Pyruvate Kinase Deficiency (Labrador Retriever Type)

Pyruvate Kinase Deficiency (PKD) in Labrador Retrievers is an inherited disorder that leads to severe anemia and liver dysfunction due to a deficiency in the pyruvate kinase enzyme.

Affected Genes: PKLR

Inheritance: Autosomal Recessive

Variant(canFam6):
chr7:41759751: G>A

Breed: Australian Labradoodle*
Labradoodle*
Labrador Retriever

General Information: Pyruvate Kinase Deficiency (PKD) in Labrador Retrievers affects the enzyme responsible for the final step of glycolysis, essential for energy production in cells, particularly in red blood cells. This deficiency causes a significant reduction in red blood cell lifespan, leading to hemolytic anemia. Symptoms typically manifest between four months and two years of age, including pale gums, lethargy, and reduced tolerance for exercise. Dogs may also show signs of bone hardening and significant enlargement of the liver and spleen due to the extramedullary hematopoiesis attempting to compensate for anemia. The progression of symptoms often leads to severe health complications, with most affected dogs succumbing to liver failure or overwhelming anemia by the age of five.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Pyruvate Kinase Deficiency (PKD) in Labrador Retrievers targets mutations in the PKLR gene, which is crucial for the proper functioning of the pyruvate kinase enzyme. The condition is autosomal recessive, meaning a dog must inherit two copies of the defective gene to exhibit symptoms of the disease. Carrier dogs, possessing only one copy of the mutated gene, typically show no symptoms but can produce affected offspring if bred with another carrier. Each puppy from such a mating has a 25% chance of being affected and a 50% chance of being a carrier. For breeders, conducting reliable genetic testing is vital for informed breeding decisions to prevent the propagation of this disease. Avoiding the breeding of carriers to each other is recommended to reduce the risk of producing affected offspring. Non-carrier dogs are not at risk of having affected pups, ensuring a healthier future generation. As always, a negative test result does not rule out other genetic conditions that might cause similar symptoms, emphasizing the need for comprehensive health management strategies.

References:
Inal Gultekin G, Raj K, Foureman P, Lehman S, Manhart K, Abdulmalik O, Giger U. Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. J Vet Intern Med. 2012 26(4):935-944.