Autosomal erythropoietic protoporphyria

Autosomal erythropoietic protoporphyria

Definition

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

Also known as EPP — per MONDO

Also identified as