Pyruvate Kinase Deficiency

in Basenji's

Pyruvate Kinase Deficiency

Pyruvate Kinase (PK) is an enzyme found in red blood cells, it enables red blood cells to survive long enough in the bloodstream of the animal to fulfill coagulation and other necessary functions. A lack of PK causes red blood cells to break down and be destroyed too quickly. This leads to lifelong hemolytic anemia, which can cause fatigue and fertility issues.

PK deficiency usually strikes between 4 months to 2 years of age. It presents as lethargy, pale gums and low RBC count.

Intact and destroyed red blood cells as a result of Pyruvate Kinase Deficiency
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Pale gums in a patient with hemolytic anemia (PK deficiency).
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Genotypic distribution of Pyruvate Kinase Deficiency
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Discussion topic: Breeding for the "best" animal.

What if we crossed a dog with inherited Polycythemia* (a disease causing overproduction of red blood cells) and a dog with inherited Pyruvate Kinase deficiency (autosomal recessive)... would they eventually create a generation where these diseases are eradicated? Or would we just create a new strain of red blood cell overproduction, in which, the red blood cells are prematurely destroyed?


*Recently, a mutation in the JAK-2 gene has been identified in dogs with Polycythemia Vera.

References:


Zanella, A., et al., 2007. Pyruvate kinase deficiency: the genotype-phenotype association. PubMed.gov, (4): 217-231. Retrieved from: http://www.ncbi.nlm.nih.gov/pubmed/17360088


Whitney KM, Lothrop CD Jr. Genetic test for pyruvate kinase deficiency of basenjis. Amer Vet Med Assoc. 1995. (7):918-921. Retrieved from: https://www.pawprintgenetics.com/products/tests/details/7/


Grahn RA, Grahn JC, Penedo MCT, Helps CR, Lyons LA. Erythrocyte Pyruvate Kinase Deficiency Mutation Identified in Multiple Breeds of Domestic Cats. BMC Veterinary Medicine 2012. Retrieved from: https://www.vgl.ucdavis.edu/services/pkdeficiency.php


Searcy, G.P., et. al., 1971. Congenital Hemolytic Anemia in the Basenji Dog Due to Erythrocyte Pyruvate Kinase Deficiency. Comp Med Journal, (35). Retrieved from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1319543/


http://www.vetdnacenter.com/canine-disease-PK.html


http://doghealthpartner.com/polycythemia-vera-dogs/