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Acute Intermitent Porphyria (Domestic Short/Long Hair Type) Overview

Acute Intermitent Porphyria (Domestic Short/Long Hair Type)
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Category: Metabolic (Associated with the Body's Enzymes and Cell Metabolism)


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

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Dominant

Test Overview: Erythrodontia is the hallmark of human congenital erythropoietic porphyria (CEP), but is also a major phenotypic feature of acute intermittent porphyria (AIP) in cats. Cats with autosomal dominant AIP presented with erythrodontia, yellow-brown urine and mild changes in erythrocytes.

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