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Canine Pyruvate Kinase Deficiency (PK) - Beagle Type
| Acronym: | PKD, PKDef, PK Deficiency |
| Gene: | PKLR |
| Mutation: | c.994G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Canine Pyruvate Kinase Deficiency (PK) is a genetic disorder characterized by low levels of pyruvate kinase enzyme in the red blood cells. PK deficiency has been reported in dogs, cats, and humans and it is caused by different mutations within the PKLR gene. One of the variants found in dogs is the Beagle type caused by a missense mutation. Pyruvate kinase is a regulatory enzyme of anaerobic glycolysis and energy generation and its deficiency causes cellular death of erythrocytes. Dysfunctional red blood cells or lack of them can cause exercise intolerance, episodes of severe weakness, rapid heart rate, and other signs in affected dogs. In more severe forms it can lead to severe hemolytic anemia and hepatic failure which can cause death or euthanasia.
Pyruvate Kinase Deficiency associated with the Beagle dog breed is inherited as an autosomal recessive trait, requiring two copies of the mutated PKLR gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Since the disease may have severe consequences, early detection by genetic testing is crucial for helping breeders in selecting future mating pairs and preventing the passing of the mutation to the offspring.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Gultekin, G. I., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O., Giger, U. (2012). Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs. Journal of veterinary internal medicine, 26(4), 935–944. https://doi.org/10.1111/j.1939-1676.2012.00958.x
Prasse, K. W., Crouser, D., Beutler, E., Walker, M., Schall, W. D. (1975). Pyruvate kinase deficiency anemia with terminal myelofibrosis and osteosclerosis in a beagle. Journal of the American Veterinary Medical Association, 166(12), 1170–1175.