Protoporphyria, Erythropoietic

Overview

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.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Protoporphyria, Erythropoietic

Topic type

Condition

Category

Dermatology

MeSH classification

C06.552.830.812|C16.320.850.742.812|C17.800.827.742.812|C18.452.811.400.812

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