Glossary

Screening Scheme Description

DNA test - PFK
Phosphofructokinase Deficiency

Details about the disease

PFK leads to a lack of the phosphofructokinase enzyme, without which muscle cells and red blood cells are unable to produce enough adequate energy for their needs.

Clinical signs

Intermittent clinical signs include weakness, lethargy (lack of energy), exercise intolerance, poor performance, muscle cramps, anaemia (reduced number of red blood cells), jaundice (yellowing of the skin or whites of the eyes) and dark-coloured urine. Dark-coloured urine, a hallmark of this disorder, usually appears after strenuous exercise or after excessive barking, panting or heat exposure.

How it is inherited

The disease is described as an autosomal recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.

Which laboratories test for this condition?

A list of laboratories and DNA tests can be found at the following link http://www.thekennelclub.org.uk/health/for-breeders/dna-testing-simple-inherited-disorders/worldwide-dna-tests/

How to responsibly breed from your DNA tested dog

If, once your dog is DNA tested, you would like to find out what their DNA test results mean, or how to select the right mate to avoid producing affected puppies, then please read our breeding advice and information on the following link http://bit.ly/2oSbtnn.

How to find out if a potential mate has been DNA tested

The Kennel Club’s “Health Test Results Finder” allows you to find the results of DNA tests carried out as part of official Kennel Club DNA testing schemes for any dog on the Kennel Club’s breed register. To access this free health tool, please follow this link http://bit.ly/1jyCFnc.

 

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