Pyruvate Kinase Deficiency (Beagle Type)
Affected Genes: PKLR
Inheritance: Autosomal Recessive
Variant(canFam6):
chr7:41760571: 6 bp insertion GACCAA
Breed: Beagle
General Information:
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 Beagles targets the PKLR gene, which codes for the enzyme pyruvate kinase. This disease is autosomal recessive, requiring a dog to inherit two defective genes, one from each parent, to exhibit symptoms. Carriers possess one mutated gene but do not show any disease signs; however, breeding two carriers poses a significant risk of producing affected offspring. Each puppy from such a mating has a 25% chance of being affected and a 50% chance of being a carrier. Responsible breeding practices, supported by reliable genetic testing, are critical to prevent the breeding of carriers to each other and thus reduce the risk of propagating this debilitating condition. It is recommended to breed only animals that do not carry the defective gene to ensure the health of future generations. Additionally, while this genetic test is a powerful tool for breeding decisions, it does not rule out other potential genetic or non-genetic causes of similar symptoms.
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.
Prasse KW, Crouser D, Beutler E, Walker M, Schall WD. Pyruvate kinase deficiency anemia with terminal myelofibrosis and osteosclerosis in a beagle. J Am Vet Med Assoc. 1975 166(12):1170-1175.