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Symptoms of pyruvate kinase deficiency usually begin to show around four months to one year.
The symptoms can include weakness, lack of energy, rapid heart rate, heart murmurs, pale gums, and stunted growth.
As the disease progresses, bones and the liver can be affected.
The disease is ultimately fatal.
Puruvate Kinase Deficiency was originally documented in the Basenji and has since been reported in other breeds, including Dachshunds, Labrador Retrievers, Pugs, Beagles, Cairn Terrier and West Highland White Terriers.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Gene:
PKLR
Variant Detected:
c.799C>T
Mode of Inheritance:
Recomended Screening:
Research Citation(s):