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Erythropoietic Protoporphyria Summary

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.

Also Known As: Protoporphyria, Erythropoietic; Ferrochelatase Deficiency; Heme Synthetase Deficiency; Deficiencies, Ferrochelatase; Deficiencies, Heme Synthetase Show All >>

Networked: 377 relevant articles (15 outcomes, 22 trials/studies) for this Disease

Key Drugs and Agents for Erythropoietic Protoporphyria

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. beta Carotene (Betacarotene) : 3 outcomes 2 studies in 33 results : FDA 1
  2. afamelanotide : 2 outcomes 3 studies in 7 results : IBA
  3. Cysteine (L-Cysteine) : 2 outcomes 2 studies in 4 results : FDA 10
  4. Antioxidants : 2 outcomes in 2 results : IBA
  5. Cholestyramine Resin (Questran) : 1 outcome 1 study in 4 results : FDA 18 Generic
  6. Iron : 1 outcome in 27 results : IBA
  7. Hemoglobins (Hemoglobin) : 1 outcome in 6 results : IBA
  8. Melanocyte-Stimulating Hormones (MSH) : 1 outcome in 4 results : IBA
  9. zinc protoporphyrin : 1 outcome in 4 results : IBA
  10. Hormones : 1 outcome in 3 results : IBA
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Diseases Related to Erythropoietic Protoporphyria

  1. Porphyrias
  2. Porphyria Cutanea Tarda
  3. Acute Intermittent Porphyria (Porphyria, Acute)
  4. Liver Diseases (Liver Disease)
  5. Hepatic Porphyrias (Hepatic Porphyria)
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Key Therapies for Erythropoietic Protoporphyria

Efficacy Chart >>
  1. Splenectomy : 1 outcome in 1 result
  2. Transplants (Transplant) : 1 study in 4 results
  3. Liver Transplantation : 29 results
  4. Bone Marrow Transplantation (Transplantation, Bone Marrow) : 7 results
  5. Erythrocyte Transfusion : 3 results
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