Abstract
Publisher Summary Erythropoietic protoporphyria (EPP) is a rare genetic disease in which singlet oxygen is involved in the production of its clinical manifestations and singlet oxygen quenchers are utilized in its treatment. In EPP, the enzyme ferrochelatase, which inserts iron into protoporphyrin to form heme, is defective. This defect allows protoporphyrin to accumulate in the blood, from which it makes its way to the skin, as well as to other organs. Protoporphyrin is known to be a powerful photosensitizer, which in the presence of light and oxygen will form free radicals and singlet oxygen. These excited species will attack cellular components, which will eventually lead, via a series of reactions that are unelucidated at this time, to the symptoms of pain, burning, or itching of the light-exposed skin experienced by patients suffering from EPP. This chapter describes a method that can be used to determine the involvement of singlet oxygen in photosensitized skin and also discuss the present treatment for EPP and the possibilities for curing this disease by means of gene therapy.
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