Pyruvate dehydrogenase phosphatase 1 deficiency (PDP1)

Pyruvate dehydrogenase phosphatase 1 deficiency (PDP1) is a hereditary disease which can be tested with a DNA test. Exercise intolerance syndromes in humans and animals are well known to be associated with inborn errors of metabolism affecting glycolysis and fatty acid oxidation. PDP1 is a hereditary disease in Clumber and Sussex Spaniels. This hereditary disease is caused by deficiency of pyruvate dehydrogenase phosphatase 1, an enzyme that activates the pyruvate dehydrogenase complex. This enzyme complex is presented in every cell of the body and is involved in energy production.

PDP1 deficiency in Clumber and Sussex Spaniels clinically appears in 1 year as an exercise intolerance. Proper diet rich in fats and low in sugar can control disease progression. Without this diet, affected dogs will die within a few years of age. Some studies also suggest that PDP1 deficiency causes high numbers of neonatal deaths and deaths shortly after birth. 

Inheritance: autosomal recessiveread more

Mutation: PDP1 gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.


45.14 €

  • You can order free sampling kit.
  • Only one sample is required for each animal, even if you order several tests.
  • Samples are stored for the option to order additional tests.
  • We offer expert assistance in interpreting the results.
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