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Acute Intermittent Porphyria (Variant 1)

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Test Overview:

Because it is autosomal dominant, cats with even one copy of the mutation are at risk of developing clinical signs, which can range in severity. Breeding cats that carry one or two copies of the disease mutation is not recommended as there is a significant risk of producing affected offspring. If a cat with one copy of the AIP mutation is bred with a genetically clear cat (no mutation), about 50% of the kittens will inherit one copy of the mutation and potentially develop symptoms. Genetic testing for the HMBS mutation should be performed on breeding animals to identify carriers or affected individuals. Breeders should avoid breeding carriers to reduce the frequency of the mutation and incidence of disease in the population. While genetic testing helps, clinical signs of AIP can be influenced by other genetic and environmental factors, so careful health monitoring is also important. Owners and breeders are encouraged to collaborate with veterinarians to develop breeding and health management plans based on test results.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

HMBS

Variant Detected:

deletion (c.107_110delACAG) and splicing alteration (c.826-1G>A)

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 Dominant

Research Citation(s):

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Sonia Clavero,a Yuri Ahuja,a David F. Bishop,a Brittany Kwait,a Mark E. Haskins,b Urs Giger,b and Robert J. Desnicka,* Vet J. 2013 Dec; 198(3): 720–722.

Associated Breed(s):

Domestic Medium / Long Hair, Domestic Short Hair, Mixed Breed,
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