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Pyruvate Kinase Deficiency (Beagle Type)

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Test Overview:

Pyruvate Kinase Deficiency (Beagle Type) is an inherited metabolic disease affecting beagles. Dogs affected with this disorder have insufficient activity of the enzyme pyruvate kinase, which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (haemolysis). Affected dogs will typically present with pale gums from decreased numbers of red blood cells (Anemia) and lethargy or exercise intolerance between 4 months and 2 year of age. Clinical findings during a veterinary exam include severe anaemia, hardening of the bones, and an enlarged spleen and liver. While dogs can live for several years with this disease, they typically die from severe anaemia or liver failure by 9 years of age.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Pyruvate kinase L/R (PKLR) Chromosome 7

Variant Detected:

chr7:42268927: G>A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the PKLR gene will reliably determine if a dog is a genetic carrier of pyruvate kinase deficiency (beagle type).

Research Citation(s):

Gultekin GI, et al. Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs.(2012) J Vet Internal Med 26(4);935-944. 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 Jul-Aug;26(4):935-44. [PubMed: 22805166] 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 Jun 15;166(12):1170-5. [PubMed: 1141034]

Associated Breed(s):

Beagle, Mixed Breed,

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