Pyruvate Dehydrogenase Phosphatase Deficiency

 

Gene: PDP1

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, PDP1 gene; c.754 C>T, p.(Q277 STOP)

Medical system: Metabolic

Breeds: Clumber Spaniel, Sussex Spaniel

Age of onset of symptoms: From the age of 15 weeks

Pyruvate dehydrogenase phosphatase deficiency is a metabolic disease that affects the Clumber Spaniel and the Sussex Spaniel by the age of 15 weeks. Pyruvic acid is a molecule necessary for the production of energy in the muscles. Affected puppies do not play with other puppies in the litter. At the age of 1 year, puppies are intolerant to exercise and are not able to play more than 5 minutes. They walk very slowly, usually stay seated and collapse during exercise. Increasing the fat content of the diet is felt to ease the condition. The disease may be responsible for a high rate of neonatal mortality.

 

References:

OMIA link: [1406-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Cameron JM, Maj MC, Levandovskiy V, et al. (2007) Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Molecular Genetics and Metabolism 90:15-23. [pubmed/17095275]