Pyruvate Dehydrogenase Phosphatase 1 Deficiency

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.

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.