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Acute Intermittent Porphyria (Variant 1)

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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.

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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