Pyruvate Dehydrogenase Phosphatase Deficiency - PDP

 

Overview

PDP is a common neurodegenerative disorder in which the body is unable to derive energy from carbohydrates for it’s general functions. The disease is associated with an abnormal mitochondrial metabolism caused by enzyme deficiencies. The citric acid cycle in the mitochondria, which usually draws energy from carbohydrates, is unable to do so, this malfunction in the cycle deprives the body of energy. Severe enzyme deficiencies may lead to congenital brain malformation during neural development.

Severity - 5

PDP has a high degree of severity; though this disease is not fatal, it affects many aspects of the dog’s life and it is often distressing for family as their pet suffers.

Symptoms

SYMPTOMS PDH results in:
- Severe lethargy
- Poor feeding habits
- Abnormally rapid breathing
- Exercise intolerance
- Post Exercise collapse

Genetic Testing

Animal Network provides a DNA test that determines the genetic predisposition to PDP.

Pyruvate Dehydrogenase Phosphatase Deficiency (PDP) is an autosomal recessive disease. A recessive phenotype (trait or disease) will only be expressed when two copies of the recessive gene variant are present. A direct gene test can detect whether a dog is clear, carrier or is affected by the disease.

A dog with two copies of the recessive gene variant is affected, they will express the phenotype and will pass a copy of the gene variant onto their offspring 100% of the time. A dog with one copy of the recessive gene variant is a carrier, they do not express the phenotype themselves, however they are will pass the gene variant onto their offspring 50% of the time. A dog that has does not have any copies of the recessive gene variant is clear, and will never produce affected offspring.

For an explanation of possible genetic status of offspring please refer to our fact sheet on Breeding strategies. ORDER A TEST

Breeds Affected

Clumber Spaniel
Sussex Spaniel


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