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Pyruvate Kinase Deficiency (Feline)

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Test Overview:

Genetic testing of all breeding cats, especially in predisposed breeds, is strongly recommended to identify carriers and affected individuals. Cats with two copies of the mutation (affected) should never be bred to prevent transmission of the disease. Cats with one copy (carriers) should be bred only to cats tested clear of the mutation to avoid affected kittens. Avoid mating two carriers together as this leads to affected progeny. Sharing genetic test results openly helps breeders make responsible breeding decisions to reduce disease incidence while maintaining genetic diversity.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

PKLR

Variant Detected:

c.693+304G>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of all breeding animals should be carried out prior to entering into a breeding (e.g. at 6-12 months of age).

Research Citation(s):

BMC Vet Res. 2012 Oct 30;8:207

Associated Breed(s):

Abyssinian, Bengal, Egyptian Mau, Elf Cat, LaPerm , Maine Coon, Munchkin Short/Long Haired, Norwegian Forest Cat, Russian Black, Russian Blue, Russian White, Savannah, Siberian, Singapura, Somali ,
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