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Congenital Erythropoietic Porphyria in Cats

By George M. Barrington, DVM, PhD, DACVIM, Professor, College of Veterinary Medicine, Washington State University ; Jean A. Hall, DVM, PhD, DACVIM, Professor, Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University ; Sharon J. Spier, DVM, PhD, DACVIM, Professor, Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California ; Ivan W. Caple, BVSc, PhD, MACVSc, MRCVS, Dean, Faculty of Veterinary Sciences, Veterinary Clinical Centre, University of Melbourne ; David L. Evans, BVSc, PhD, Associate Professor, Faculty of Veterinary Science, University of Sydney ; Don A. Franco, DVM, MPH, DACVPM, Retired President, Center for Biosecurity Food Safety and Public Health ; Katharine F. Lunn, BVMS, MS, PhD, MRCVS, DACVIM, Associate Professor, Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University ; Donald C. Sawyer, DVM, PhD, Professor Emeritus, Michigan State University

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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. 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.

Cats with congenital erythropoietic porphyria have a reddish brown discoloration of the teeth.

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