A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.
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hereditary coproporphyria
MONDO:0007369
cutaneous porphyria
MONDO:0009902
X-linked erythropoietic protoporphyria
MONDO:0010420
porphyria due to ALA dehydratase deficiency
MONDO:0013000
porphyria cutanea tarda
MONDO:0015104
erythropoietic uroporphyria associated with myeloid malignancy
MONDO:0017231