Erythropoietic Protoporphyrie And X-Linked Protoporphyrie

Erythropoietic protoporphyria (EPP) is caused by an inherited deficiency in the activity of the enzyme ferrochelatase, and X-linked protoporphyria (XLPP) is due to an inherited increase in the activity of ?-aminolevulinic acid synthase 2; both enzymes are heme biosynthesis (see Table: substrates and enzymes of the heme biosynthesis and the problems associated with their lack of diseases). EPP and XLPP are clinically almost identical. They manifest themselves typically in infancy…

September 3, 2018
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