Channel
Breeding
Dog Horse Camelids
Owner & Co.
Dog Horse Camelids
|
Go to homepage
Channel
Breeding
Dog Horse Camelids
Owner & Co.
Dog Horse Camelids
|
|

Pyruvate Kinase Deficiency (PK Dog)

Pyruvate kinase deficiency (PK) is a metabolic disease in which an enzyme (pyruvate kinase) is missing in the process of carbohydrate breakdown (glycolysis). The cellular energy supply, especially of the erythrocytes (red blood cells), is thereby disturbed. Affected dogs show anaemia, general weakness and liver problems.

The disease occurs in the Labrador Retriever and the Pug. The inheritance is autosomal recessive.

Symptoms

  • Haemolytic anaemia
  • General weakness
  • Hepatosplenomegaly (swelling of the liver and spleen)

General Information

  • Pyruvate kinase deficiency (PK) is a metabolic disease in which an enzyme (pyruvate kinase) is missing in the process of carbohydrate breakdown (glycolysis).
  • The cellular energy supply, especially of the erythrocytes (red blood cells), is thereby disturbed.
  • In affected adult animals, liver failure can occur in addition.
  • The quality of life of affected dogs is severely reduced.

Breeds affected

Labrador Retriever and Pug, dog breeds affected by pyruvate kinase deficiency (PK)

Labrador Retriever and Pug

Test Information

This mutation test detects a change of a single base pair (Labrador: c.799C>T; Pug: c.848T>C) in the PKLR gene.

Both mutations are tested.

Genotype and Lab Report

Inheritance: autosomal recessive

→ The disease only occurs if both alleles of the gene are affected by the mutation (pk/pk). Dogs that have only one allele with the causative mutation (N/pk) are clinically healthy carriers.

Genotypes:

N/N = genetically normal

The dog has no predisposition for PK and therefore cannot pass it on to its offspring.

N/pk = a carrier

The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.

pk/pk = affected

The variation is passed on 100% to the offspring (if the animal is able to reproduce at all). The offspring are carriers or affected.

Recommendations

  • Carrier animals can be bred to normal animals (N/pk x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
  • Mating two carrier animals (N/pk x N/pk) should be avoided because there is a 25% chance that the offspring will be affected.
  • Affected animals (pk/pk) should be excluded from breeding.

Literature

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 Online Mendelian Inheritance in Animals.