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Congenital Erythropoietic Porphyria (CEP) is a rare enzyme disorder in domestic cats that affects red blood cells and can cause brownish discoloration of the teeth.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | D2 |
| Mutation | c.331G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | CEP |
Informations générales
Congenital Erythropoietic Porphyria (CEP) is a rare enzyme disorder in domestic cats that affects red blood cells and can cause brownish discoloration of the teeth. The disorder is caused by a recessive mutation to the gene UROS.
Caractéristiques cliniques
The primary symptoms of CEP are reddish-brown urine and brownish discoloured teeth. An affected cat’s teeth also fluoresce bright pink or magenta under ultraviolet light.
Additional Information
Références
Pubmed ID: 20485863
Year published: 2010
Omia ID: 1175
Omia variant ID: 137