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Phosphofructokinase Deficiency

Phosphofructokinase Deficiency (PFK) is a disorder where an enzyme important in the production of energy from sugars is lacking, resulting in weakness, muscle cramps, discolored urine, anemia, and jaundice.

Found in

1 in 1,700 dogs

in our testing

Key Signs

Hemolytic anemia, Hemolytic crises, Mild metabolic myopathy, Pigmenturia, Cardiac problems (observed in the Whippet only)

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with PFK

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about PFK

Dogs suffering from PFK deficiency display hemolytic anemia (breakdown of red blood cells) especially with alkaline blood. Barking or panting, rigorous exercising, or high environmental temperature may trigger the clinical signs by increasing the body's pH value. This may lead to a hemolytic crisis causing anemia, fatigue, and fever. Affected dogs can also show pigmenturia and jaundice after an episode. Other milder clinical signs include muscle weakness and reduced exercise tolerance. Cardiac problems have also been observed in Whippets.

Treatment is supportive care dictated by the severity of the clinical signs during an episode. Owners of affected dogs should be advised on how to manage their dog so that hemolytic episodes can be prevented.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the PFK mutation can be safely bred with a clear dog with no copies of the PFK mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the PFK mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the PFK mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene PFKM
Variant G>A
Chromosome 27
Coordinate 6,620,819

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Gerber, M., Fischer, A., Jagannathan, V., Drögemüller, M., Drögemüller, C., Schmidt, M. J., … Leeb, T. (2015). A deletion in the VLDLR gene in eurasier dogs with cerebellar hypoplasia resembling a dandy-walker-like malformation (DWLM). PLoS ONE, 10(2), 1–10. View the article

Giger, U., Harvey, J. W., Yamaguchi, R. A., McNulty, P. K., Chiapella, A., & Beutler, E. (1985). Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: Increased in vitro and in vivo alkaline fragility of erythrocytes. Blood. View the article

Hillström, A., Tvedten, H., Rowe, A., & Giger, U. (2011). Hereditary phosphofructokinase deficiency in Wachtelhunds. Journal of the American Animal Hospital Association. View the article

Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O., & Giger, U. (2012). Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary Hemochromatosis in Dogs. Journal of Veterinary Internal Medicine, 26(4), 935–944. View the article

Smith, B. F., Stedman, H., Rajpurohit, Y., Henthorn, P. S., Wolfe, J. H., Patterson, D. F., & Giger, U. (1996). Molecular basis of canine muscle type phosphofructokinase deficiency. Journal of Biological Chemistry, 271(33), 20070–20074. View the article