Pyruvate Dehydrogenase Deficiency

General Information: Pyruvate Dehydrogenase Deficiency (PDD) is a severe metabolic condition that affects dogs, typically manifesting early in life. Dogs with PDD struggle with basic activities due to inadequate energy production from pyruvate, a key component in muscle metabolism. Symptoms usually appear around 15 weeks of age, beginning with noticeably reduced stamina compared to littermates. By the time affected dogs are one year old, they exhibit marked exercise intolerance, often sitting or lying down abruptly during play and showing signs of distress like slow walking or frequent resting. If pushed to continue activity, affected dogs may collapse. Although brief rests might temporarily restore their energy, any subsequent exertion leads to rapid fatigue. Without appropriate dietary management, the prognosis for affected dogs is poor, often leading to premature death within a few years.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Pyruvate Dehydrogenase Deficiency (PDD) focuses on the PDP1 gene to identify carriers and affected individuals. This condition is inherited in an autosomal recessive pattern, requiring a puppy to inherit two copies of the mutated gene—one from each parent—to show symptoms. Carriers, having only one copy of the mutation, typically do not exhibit any health symptoms but can pass the mutated gene to their offspring. Breeding two carriers results in a 25% chance of producing affected puppies, and each puppy from such a mating has a 50% chance of being a carrier. For responsible breeding practices, it is critical to test breeding dogs to ensure they are not carriers of the PDP1 mutation, thus helping to prevent the propagation of this debilitating condition. It is recommended to avoid breeding carriers together to eliminate the risk of affected offspring. Normal testing results, while reassuring, do not preclude the presence of other genetic disorders that might cause similar symptoms, underscoring the need for comprehensive genetic screening.