EVG, molekularna diagnostika
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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. 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 recessive- read more

Mutation: PDP1 gene

Genetic test: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: Clumber spaniel, Sussex spaniel.

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


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