红细胞生成性原卟啉病(EPP)是一种罕见的遗传性疾病,为卟啉症中第3大病种,以常染色体显性方式遗传,其特征是体内亚铁螯合酶活力低于正常值的1/2,而该酶参与血红素的生物合成,故其活力降低会导致其底物原卟啉在骨髓和红细胞中积聚,从而致使皮肤对光敏感,即使短暂性暴露于正常日 Erythropoietic protoporphyria (EPP), a rare genetic disorder, is the autosomal dominant inheritance of the third largest disease in porphyria and is characterized by an in vivo ferrous chelatase activity that is less than 1/2 of normal, and this enzyme is involved in the biosynthesis of heme, so its reduced activity leads to the accumulation of its substrate protoporphyrin in bone marrow and red blood cells, causing the skin to become light-sensitive, even though transient exposure to normal day