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Pyruvate Dehydrogenase Phosphatase 1 Deficiency

Pyruvate Dehydrogenase Phosphatase 1 (PDP1) Deficiency is a metabolic disorder characterized by exercise intolerance.

Key Signs

Exercise intolerance, Lactic acidosis

Age of Onset

0 to 2 yrs

Juvenile onset

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 PDP1

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 PDP1

PDP1 deficiency affects the energy metabolism of the muscles. Physical exercise causes lactic acid build up leading to low blood pH and lactic acidosis. Affected dogs suffer from exercise intolerance and they may collapse during physical activity. Affected dogs can ease the symptoms of PDP1 deficiency by resting. The exercise intolerance is usually detected in the first year of a dog's life.

Therapy is limited to symptomatic treatments and general supportive care. There is no cure.

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 PDP1 mutation can be safely bred with a clear dog with no copies of the PDP1 mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the PDP1 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 PDP1 mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene PDP1
Variant C>T
Chromosome 29
Coordinate 38,788,845

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Cameron, J. M., Maj, M. C., Levandovskiy, V., MacKay, N., Shelton, G. D., & Robinson, B. H. (2007). Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Molecular Genetics and Metabolism, 90(1), 15–23. View the article