Pyruvate Kinase Deficiency

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).

Genetic testing, blood work, abdominal ultrasound, and bone imaging/biopsy are used to diagnose this disease.

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.

Talk to your vet about your dog’s pyruvate kinase deficiency result, as it may influence how they monitor your dog’s red blood cell counts and overall health over time.

Schedule regular checkups and bloodwork so your vet can look for early signs of anemia or other changes.

Keep your dog healthy with balanced nutrition, routine preventive care, and a low-stress lifestyle to help support their overall well-being.

If your dog shows signs such as weakness, pale gums, or fatigue, contact your vet for evaluation and care recommendations.

This mutation was first described in the Pug.

Penetrance: This syndrome is inherited in an autosomal recessive manner, meaning that a dog must have two copies of the mutation to be affected.

Gene

PKLR Exon 7 SNP Variant 2

Inheritance type

recessive

Clinical category

Hematologic

Citations

1. Gultekin et al 2012b

• Pug