Breeds Affected: Clumber Spaniel, Sussex Spaniel
Samples Accepted: Blood, Buccal Swab
Disease Information: Pyruvate Dehydrogenase Deficiency in Clumber and Sussex Spaniels causes a build-up of lactic acid in muscles, resulting in exercise intolerance and collapsing after exercise. The disease can be managed by restricting exercise and feeding a specific diet and supplements.
Inheritance Information: PDD is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/pdd The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/pdd carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
pdd/pdd The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/pdd carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/pdd x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/pdd x N/pdd) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (pdd/pdd) should not be used for breeding.
Test information: This mutation test identifies a single base change in the PK gene.
Cameron, JM., Maj, MC., Levandovskiy, V., MacKay, N., Shelton, GD., Robinson, BH.: Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. Mol Genet Metab 90:15-23, 2007. Pubmed reference: 17095275. DOI: 10.1016/j.ymgme.2006.09.011
Further information is available at the Online Mendelian Inheritance in Animals website.