Disease or Syndrome
protoporphyria
Subclass of:
Porphyrias, Hepatic
Definitions related to erythropoietic protoporphyria:
  • (protoporphyria) Autosomal dominant disorder due to partial deficiency of ferrochelatase, characterized by an excess of protoporphyrin and a wide variety of photosensitive skin changes.
    CRISP Thesaurus
    National Institutes of Health, 2006
  • A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. 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.
    NCI
    U.S. National Cancer Institute, 2021
  • (protoporphyria, erythropoietic) 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.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
  • The term protoporphyria now encompasses 2 clinically similar but distinct disorders that most often result from hereditary mutations in 2 different genes. The more common of these is erythropoietic protoporphyria, (EPP, OMIM 177000), which is caused by impaired activity of ferrochelatase (FECH), the ultimate enzyme of heme biosynthesis.
    Medscape
    WebMD, 2025
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