congenital-erythropoietic-porphyria

Congenital Erythropoietic Porphyria

Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.

Posted September 23, 2022 by Anusha ‐ 3 min read

⌖ diseases treatments syndromes disorders cep gunther-disease uros-deficiency congenital-erythropoietic-porphyria uroporphyrinogen-iii-synthase-deficiency health