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Acute Intermittent Porphyria (Variant 2)

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Test Overview:

Because AIP Variant 2 is autosomal dominant, a single copy of the mutation can cause disease. Breeding cats with one or two copies of the mutation is not recommended, as they are likely to produce affected offspring. Genetic testing is essential before breeding decisions to identify carriers or affected individuals. Avoid breeding affected cats or carriers to reduce the prevalence of AIP in the population. Collaborate with veterinarians and genetic counselors when planning breeding programs to ensure animal welfare and breed health.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

HMBS

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

Recommended Screening:

Genetic testing is recommended for all cats who have brown coloured urine or teeth.

Research Citation(s):

Clavero, S., Ahuja, Y., Bishop, D.F., Kwait, B., Haskins, M.E., Giger, U., Desnick, R.J. : Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J 198:720-2, 2013. Pubmed reference: 24239138

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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