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Pyruvate Kinase Deficiency (Labrador Type)
Test Overview:
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.
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
PKLR
Variant Detected:
c.799C>T
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.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
J Vet Intern Med. 2012 Jul 13. doi: 10.1111/j.1939-1676.2012.00958.x.
Associated Breed(s):
Australian Labradoodle , Cavador, Goldendoodle, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,
