Pyruvate Kinase Deficiency (Terrier Type)

Other Names: Erythrocyte pyruvate kinase deficiency, PK Deficiency, PKD
Affected Genes: PKLR
Inheritance: Autosomal Recessive
Mutation: chr7:42269743-42269761 (canFam3): 6 bp insertion (ins AAGACC or ACCAAG)

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Common Symptoms

Pyruvate kinase deficiency (terrier type) is an inhered metabolic disease affecting West Highland white terriers. Affected dogs have insufficient activity of the pyruvate kinase Enzyme which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (hemolysis). Affected dogs typically present between 4 months and 1 year of age with pale gums from decreased numbers of red blood cells (Anemia) and lethargy or exercise intolerance. Clinical findings during a veterinary exam include severe anemia, 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 anemia or liver failure by 5 years of age.

Breed-Specific Information for the West Highland White Terrier

The Mutation of the PKLR gene associated with pyruvate kinase deficiency (terrier type) has been identified in the West Highland white terrier, although its overall frequency in this breed is unknown.

Testing Tips

Genetic testing of the PKLR gene in West Highland white terriers will reliably determine whether a dog is a genetic Carrier of pyruvate kinase deficiency (terrier type). Pyruvate kinase deficiency (terrier type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the PKLR gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. West Highland white terriers that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

  • Hlavac NRC, Lacerda LA, Conrado FO, et al. Hemolytic anemia caused by hereditary pyruvate kinase deficiency in the West Highland White Terrier dog. Arch Med Vet 2012 [Not in Pubmed]
  • Juvet F, Giger U, Battersby I, Menaut P, Syme HM, Mooney CT. Erythrocyte pyruvate kinase deficiency in three West Highland white terriers in Ireland and the UK. Ir Vet J. 2013 Jul 10;66(1):12. doi: 10.1186/2046-0481-66-12. [PubMed: 23842571]
  • Schaer M, Harvey JW, Calderwood-Mays M, Giger U. Pyruvate kinase deficiency causing hemolytic anemia with secondary hemochromatosis in Cairn terrier. J Am Anim Hosp Assoc 1992;28:233–239. [not in PubMed]
  • Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U. Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency. Am J Vet Res. 1999 Sep;60(9):1169-72. [PubMed: 10490091]