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Pyruvate Kinase Deficiency (Terrier Type)

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Test Overview:

Pyruvate Kinase Deficiency (Terrier Type) affects dogs and is an inhered metabolic disease. Dogs affected with this disease 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 (haemolysis). Affected dogs typically present between 4 months and 1 year of age with pale gums from decreased numbers of red blood cells (Anaemia) and lethargy or exercise intolerance. 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 5 years of age.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

PKLR

Variant Detected:

chr7:42269743-42269761: 6 bp insertion (ins AAGACC or ACCAAG)

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 (terrier type).

Research Citation(s):

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]

Associated Breed(s):

Mixed Breed,
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