Phosphofructokinase deficiency (PFK) in dogs

Phosphofructokinase deficiency (PFK) in dogs affects several different spaniel breeds and also the whippet, and is an autosomal recessive hereditary health condition that is passed on through the breed lines of affected dogs.

Phosphofructokinase is an enzyme that controls glycolysis in the body, which is in turn a metabolic pathway necessary for converting glucose into pyruvate, which releases the necessary energy to support a range of different internal functions including providing energy for the skeletal muscles when exercising, and dictating the correct shape of red blood cells.

In dogs suffering from phosphofructokinase deficiency, they do not have enough of the phosphofructokinase enzyme that allows both red blood cells and muscle cells to produce enough energy to support the dog’s needs.

Phosphofructokinase deficiency is a hereditary health condition, which means that it is not contagious and cannot be transferred from dog to dog other than by means of inheritance through their breed lines.

In order to allow dog owners that might be considering breeding from their dogs to make an informed decision about the viability of a match when it comes to breeding and making the right pairing, a health test is available for phosphofructokinase deficiency in dogs, to allow dog owners to find out their own dog’s status, and so, make a responsible choice.

In this article, we will look at phosphofructokinase deficiency in dogs in more detail, including what type of dogs can be affected by the condition, how the heredity of the condition works, and how to get dogs tested for the markers of the condition. Read on to learn more.

More about phosphofructokinase deficiency in dogs

Phosphofructokinase deficiency in dogs leads to a range of generalised symptoms in affected dogs, including lethargy and weakness, poor tolerance for exercise, inability to perform well physically, muscle cramps, and anaemia. The symptoms themselves tend to come and go, and can also include jaundice, dark, strong-smelling urine after exercise or exertion, and a low tolerance for heat and high-energy exercise.

The condition can in some cases be treated and managed, but this is often prohibitively expensive, as a bone marrow transplant from a healthy donor dog that is a match for the affected dog is required-however, this does resolve the condition if it can be carried out.

In other cases, the condition can sometimes be appropriately managed in order to provide the affected dog with a good quality of life and normal lifespan, but this is not an exact science and still comes with elevated risk factors for kidney failure and anaemia, which can often be initiated by stress, heat or excessive physical exertion.

What sort of dogs can be affected by the condition?

Phosphofructokinase deficiency is a hereditary health condition, which has been identified as present in the gene pools of several dog breeds, mainly those of the spaniel type. Breeds for which testing is advised in UK populations include the American cocker spaniel, English springer spaniel, German spaniel and American Cockerpoo. The only non-spaniel breed perceived to be at risk for the condition is the Whippet.

It is also worth noting that hybrids and cross breeds containing ancestry from any of the potentially affected breeds may also run the risk of inheriting the condition too.

How does the heredity of the condition work?

Phosphofructokinase deficiency is an autosomal recessive health condition, which means that different combinations of inheritance from the dam and the sire will lead to different combinations of results for their subsequent offspring.

• If neither parent dog is either affected by the condition themselves nor a carrier for it, their litter will be clear too.
• If both parent dogs are affected, their litter will be affected as well.
• If one dog is clear and one affected, their subsequent litter will become carriers of the condition.
• If one parent is affected and the other a carrier, each of their offspring will have 50:50 odds of being either affected or a carrier.
• If both parents are carriers for the condition but not affected by it themselves, the odds for their litter are 50% carrier, 25% clear, and 25% affected.

How to get your dog tested for the condition

If you own a dog from one of the breeds that are known to be affected by the condition and you want to breed from them, it is really important to have them tested for phosphofructokinase deficiency prior to going ahead, in order to make an informed decision about finding the right match with the best interests of the puppies in mind.

To get your dog tested, all you need to do is get a DNA sample from your dog (your vet can do this for you) and then send it off to one of The Kennel Club’s approved laboratories that can carry out the test, and return the results to you.

To find out more about testing and the laboratories that can carry out the test, check out this list on The Kennel Club’s website.