Congenital erythropoietic porphyria is a rare hereditary disease of cats, cattle, pigs, sheep, and people. It results from low levels of an enzyme involved in the production of heme. Heme is a part of hemoglobin, which is the molecule that carries oxygen in the blood. Affected animals have reddish brown discoloration of the teeth, bones, and urine at birth that continues for life. Abnormal byproducts accumulate in the skin and cause severe sensitivity to the sun (called photosensitivity). In addition, affected animals develop hemolytic anemia, a condition in which there are not enough circulating red blood cells because the body destroys them too quickly.
The condition is diagnosed based on clinical signs and laboratory tests. Although there is no specific treatment, keeping affected animals out of direct sunlight may help reduce signs of illness. Affected cats should not be bred.
Also see professional content regarding congenital erythropoietic porphyria Congenital Erythropoietic Porphyria Congenital erythropoietic porphyria (CEP) is a rare, hereditary disease of cattle, pigs, cats, and people that results from a significant yet variable decrease in uroporphyrinogen III synthase... read more .