PDP1 deficiency · PDP1-Mangel · Pyruvat-Dehydrogenase-Phosphatase-Mangel · Pyruvate Dehydrogenase Deficiency · Mitochondriale Myopathie · Mitochondrial Myopathy of Clumber Spaniels · Pyruvat-Dehydrogenase-Phosphatase-1-Mangel · Mitochondriale Muskelerkrankung · Pyruvat-Dehydrogenase-Mangel · Pyruvate Dehydrogenase Complex Deficiency · PDH Deficiency
This is an inherited metabolic disorder affecting the muscles and nervous system, caused by a deficiency in the PDP1 enzyme. Without this enzyme, the mitochondria—the energy-producing structures within cells—cannot properly convert carbohydrates into usable energy. This leads to a rapid buildup of lactic acid in the body during physical activity.
Affected dogs typically show symptoms as puppies, including extreme fatigue, rapid panting, and muscle weakness or collapse after minimal exercise. Owners may also observe a stiff, reluctant gait.
The condition is incurable and requires lifelong management, including strict physical rest and a specialized high-fat diet. Lifetime supportive care and emergency treatment for metabolic complications typically cost between 1,500 and 6,000 EUR.
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
More conditions affecting the General / metabolic.