Which enzyme deficiency is present in congenital erythropoietic porphyria?
Congenital erythropoietic porphyria (step 4). Congenital erythropoietic porphyria (CEP) is also called Gunther’s disease, erythropoietic porphyria, congenital porphyria, congenital hematoporphyria, and erythropoietic uroporphyria. CEP is inherited in an autosomal recessive manner. It is a rare disease, estimated to affect fewer than one in one million people. Onset of dramatic symptoms usually occurs in infancy, but may hold off until adulthood.
