erythropoietic protoporphyria

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Abstract is: Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. The severity varies significantly from individual to individual. A clinically similar form of porphyria, known as X-Linked dominant protoporphyria, was identified in 2008.

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erythropoietic protoporphyria is …