ffected gene: PKLR
Inheritance: Autosomal recessive
Mutation: Identified in Beagles


OMIA link: 001566-9615
Breeds suitable for testing: Beagle


Symptoms:
Pyruvate kinase deficiency causes chronic hemolytic anemia due to a decrease in red blood cell lifespan. Affected dogs may show lethargy, exercise intolerance, pale mucous membranes, and splenomegaly. The disease often progresses to bone marrow failure and organ failure.


Reference:
Giger, U., Patterson, D.F., Meyers-Wallen, V.N.: Hemolytic anemia caused by pyruvate kinase deficiency in dogs. Journal of the American Veterinary Medical Association, 190:695-701, 1987.
PubMed reference: 3826867