Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Three different erythropoietic porphyrias (EP) have been described: erythropoietic protoporphyria (EPP) the most frequent, congenital erythropoietic porphyria (CEP) /Gunther Disease, and the very rare hepatoerythropoietic porphyria (HEP). The symptoms include photosensitivity and hemolytic anemia. ALAS deficiency is responsible for X-linked sideroblastic anemia.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C58 Inborn errors of porphyrin or heme metabolism
H00201 Erythropoietic porphyria
Ohgari Y, Sawamoto M, Yamamoto M, Kohno H, Taketani S
Title
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.