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L-2-Hydroxyglutaric Aciduria (Feline)

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Test Overview:

Genetic testing for L2HGDH mutations should be conducted on all breeding cats in breeds or lines known to carry the mutation. Avoid breeding two carriers together as they have a 25% chance of producing affected kittens. Breeding a carrier to a clear (non-carrier) cat is safe; about half the offspring will be carriers but unaffected. Affected cats (two mutated copies) should not be bred due to severe disease risk. Breeders should share genetic test results transparently to make responsible mating decisions. Gradual elimination of the mutation from the breeding population can be achieved by selective breeding based on test results.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

L2HGDH

Variant Detected:

c.1301A>G

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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