Pyruvate dehydrogenase phosphate 1 deficiency (PDP-1)

Pyruvate dehydrogenase phosphate 1 deficiency (PDP-1) is a very rare metabolic disorder characterised by exercise intolerance and post-exercise collapse.

Affected dogs will show first clinical signs at around 1 year of age. The dog would, after short exercise, need to slow down and eventually sit. After few minutes of resting, dog can continue with the exercise but only for short time. Physical and neurological examinations give results within normal range. Cardiovascular examination shows mild mitral insufficiency (the mitral valve of the heart does not close properly). This condition can lead to death of young affected dogs.

PDP-1 is a genetic deficiency identified in Clumber Spaniels. The lack of the enzyme leads to a failure of the system that helps to rid the body of waste products from cell metabolism. When this complex does not function properly, the dog suffers from extreme exhaustion after very limited exercise.

The disease is described as an autosomal recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.

PDP1 requires a DNA test that is available from Laboklin and the sample for the test is gathered by a simple mouth swab. Members of the Clumber Spaniel Club and Working Clumber Spaniel Society will qualify for a 10% discount, further information on this can be obtained from Carol Page at breed-coord@clumberspanielclub.org.uk

Alternatively, you could get your dog DNA tested by Embark. As from January 2022, even if your dog is considered ‘hereditary clear’ for EIC and PDP1, you will be required to test them for both following two generations of hereditary clear status. This will be a more economical way of testing for the two conditions. Further information is available on the Embark DNA test Here, including a discount code for Clumber Spaniels ($99.00).

The results from Embark (OFA Submission report, available on your Embark account) can be forwarded to the Kennel Club (Breeder Services - hbs@thekennelclub.org.uk). If previously recorded as ’hereditary clear‘ the dogs details wIll be updated to ‘clear’ status for PDP1 (and EIC) and replaced with ‘clear’ and a test date registered as the date the KC received your email.

References

https://www.thekennelclub.org.uk/press-releases/2019/september/kennel-club-limits-hereditary-clear-status-to-support-eradication-of-health-conditions/?fbclid=IwAR1hpOz-CEQf8HepqsglbDz_FE1R0Ojga1ZQt9lHyf1-5se9rtUu_lZijWM

http://www.animalabs.com/shop/dogs/pyruvate-dehydrogenase-pdp1-deficiency/


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