Mesh term Protoporphyria, Erythropoietic
Browse to parent terms:Porphyrias, Hepatic
Description
An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.Search for this term in our Faculty Database
View this term at the NCBI website
