HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Erythropoietic Protoporphyria

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; Erythrohepatic Protoporphyria; Ferrochelatase Deficiency; Heme Synthetase Deficiency; Deficiencies, Ferrochelatase; Deficiencies, Heme Synthetase; Deficiency, Ferrochelatase; Deficiency, Heme Synthetase; Erythropoietic Protoporphyrias; Ferrochelatase Deficiencies; Heme Synthetase Deficiencies; Protoporphyrias, Erythropoietic; Synthetase Deficiencies, Heme; Synthetase Deficiency, Heme
Networked: 559 relevant articles (22 outcomes, 30 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Porphyria Cutanea Tarda
2. Porphyrias (Porphyria)
3. Acute Intermittent Porphyria (Porphyria, Acute)
4. Liver Diseases (Liver Disease)
5. Hepatic Porphyrias (Hepatic Porphyria)

Experts

1. Minder, Elisabeth I: 16 articles (01/2021 - 05/2003)
2. Gouya, Laurent: 12 articles (01/2022 - 01/2002)
3. Schneider-Yin, Xiaoye: 12 articles (01/2021 - 05/2003)
4. Bloomer, Joseph R: 10 articles (11/2019 - 03/2002)
5. Deybach, Jean-Charles: 10 articles (01/2019 - 01/2002)
6. Desnick, Robert J: 9 articles (01/2022 - 01/2012)
7. Anderson, Karl E: 9 articles (01/2021 - 06/2002)
8. Balwani, Manisha: 9 articles (01/2021 - 01/2012)
9. Barman-Aksözen, Jasmin: 9 articles (01/2021 - 10/2013)
10. Schneider-Yin, X: 9 articles (06/2015 - 08/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Erythropoietic Protoporphyria:
1. afamelanotideIBA
2. protoporphyrin IXIBA
3. beta Carotene (Betacarotene)FDA Link
4. Cimetidine (Biomet)FDA LinkGeneric
5. Cysteine (L-Cysteine)FDA Link
6. AntioxidantsIBA
7. Cholestyramine Resin (Questran)FDA LinkGeneric
8. Melanocyte-Stimulating Hormones (MSH)IBA
9. Carotenoids (Carotene)IBA
10. Hemoglobins (Hemoglobin)IBA

Therapies and Procedures

1. Therapeutics
2. Splenectomy
3. Liver Transplantation
4. Bone Marrow Transplantation (Transplantation, Bone Marrow)
5. Phototherapy (Light Therapy)