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All Diseases > Congenital Erythropoietic Porphyria
Congenital Erythropoietic Porphyria (CEP)
Disease Category: Porphyrias
A rare, inherited, metabolic disorder characterized by deficiency of the enzyme uroporphyrinogen III synthase (UROS), which allows for build-up of porphyrins in bones, bone marrow, plasma, red blood cells, urine, and teeth. Porphyrins are substances that bind metals to form complexes, such as the iron found in red blood cells. The hallmark symptom is photosensitivity (hyperreactivity to light) of the skin, resulting in bullae (sac-like skin lesions) which may become infected, scar, and/or develop discoloration. Other symptoms include bone loss due to infection, brownish-colored teeth, increased hair growth, anemia (low red blood cells), splenomegaly (enlarged spleen), eye problems, and deformities.
Research groups studying this disease
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias have various symptoms depending on the type, but these can range from neurological symptoms to sun sensitivity. See the descriptions of each type to get more information. The natural history of these disorders is not well described and it is not known why some patients are more severe than others. Therefore, the purpose of this long-term follow-up study is to collect a large group of patients with the different types of porphyria and to provide a better understanding of the natural history of these disorders. The hope is that this information will help in developing new forms of treatment. The research aims are: 1. To study the prevalence of specific indicators of disease severity. To study the effects on quality of life and health of various porphyrias. 2. To determine the relationships between disease severity and various biological characteristics, genetic information, and environmental factors.
Committed to improving the quality of life of the porphyria patient community, relentlessly focused on advancing disease awareness, research, and therapies in all the porphyrias.