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Congenital Erythropoietic Porphyria, Variant 1 (Feline)

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Test Overview:

Congenital Erythropoietic Porphyria affects feline (cats) and is a rare inherited disease. Some signs include erythrodontia and can include brown teeth and red/brown urine. Severe sensitivity to the sun and haemolytic anaemia can also occur. This disease results in the deficiency of the uroporphyrinogen III enzyme and results in the intermediate porphyrins accumulating in the teeth, skin and bones, and excretes in faeces and urine.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

UROS

Variant Detected:

c.[140C>T;331G>A]

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Congenital Erythropoietic Porphyria.

Research Citation(s):

Clavero, S., Bishop, DF., Giger, U., Haskins, ME., Desnick, RJ. : Feline congenital erythropoietic porphyria: Two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med 16:381-388, 2010. Pubmed reference: 20485863

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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