Breeds Affected: West Highland White Terrier, Cairn Terrier
Samples Accepted: Blood, Buccal Swab
Disease Information: Pyruvate Kinase Deficiency causes chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure occur in mature animals.
Inheritance Information: PK deficiency 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/pk The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/pk carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
pk/pk The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/pk carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/pk 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/pk x N/pk) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (pk/pk) should not be used for breeding.
Test information: This mutation test identifies an insertion in the PK gene.
Gultekin, G.I., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O., Giger, U.: Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. J Vet Intern Med 26:935-44, 2012. Pubmed reference: 22805166. DOI: 10.1111/j.1939-1676.2012.00958.x.
Further information is available at the Online Mendelian Inheritance in Animals website.