Pyruvate Kinase Deficiency
This is a disease of red blood cells characterized by low energy level, jaundiced skin, and pale and cool extremities. Dogs affected with PKD have red blood cells that have impaired ability to produce energy, leading to breakdown of important cell processes that contribute to form and function.
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Signs and symptoms
You may notice signs of jaundice (yellow tinged skin, gums, and sclera) and anemia (low energy, pale and cool extremities). As the disease progresses, iron reaches abnormally high levels in the liver, leading to liver malfunction and failure.
Most owners become aware of the clinical signs during puppyhood and the signs continue to worsen until the patient is no longer able to survive (typically around four years of age). -
Diagnosis
Genetic testing, blood work, abdominal ultrasound, and bone imaging/biopsy are used to diagnose this disease.
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Treatment
Currently, there is no treatment for PKD and most dogs are euthanized by four years of age due to liver failure. Some therapies are aimed at removing the heavy iron deposits of the liver, but most treatments focus on palliative care and maintaining quality of life for affected dogs. Experimental therapies, including bone marrow transplantation and gene therapy, have proven promising in a laboratory setting.
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What to do if your dog is at risk
Actions
- Giving your affected dog the best possible life, including keeping them comfortable and quiet, is all that you can do at this time.
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Genetic Information
This mutation was first described in the Beagle.
This syndrome is inherited in an autosomal recessive manner, meaning that a dog must have two copies of the mutation to be affected.
Gene names:
PKLR Exon 7 SNP Variant 3 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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