This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. Symptoms usually begin in infancy and include extreme sun sensitivity, extra body hair, discolored teeth, and anemia. Over time, people with HEP may lose skin, bone or develop scarring in sun-exposed areas. HEP is caused by a UROD gene that is not working correctly and is inherited in an autosomal recessive pattern. HEP is diagnosed based on the symptoms, clinical exam, laboratory testing, and confirmed by genetic testing. Treatment of HEP is focused on avoiding sun exposure and managing the symptoms.
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