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Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)

An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
Also Known As:
Congenital Erythropoietic Porphyria; Gunther's Disease; Porphyria, Congenital Erythropoietic; Gunther Disease; Erythropoietic Porphyria, Congenital; Porphyrias, Erythropoietic; Porphyria, Erythropoietic; UROS Deficiency; Congenital Erythropoietic Porphyrias; Erythropoietic Porphyrias; Erythropoietic Porphyrias, Congenital; Gunthers Disease; Porphyrias, Congenital Erythropoietic; Deficiency of Uroporphyrinogen III Synthase; Porphyria, Erythropoietic, Congenital; Uroporphyrinogen III Synthase, Deficiency of
Networked: 251 relevant articles (5 outcomes, 15 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
2. Inborn Genetic Diseases (Disease, Hereditary)
3. Neoplasms (Cancer)
4. Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
5. Porphyria Cutanea Tarda

Experts

1. Ged, Cécile: 14 articles (06/2021 - 02/2005)
2. Richard, Emmanuel: 12 articles (06/2021 - 06/2008)
3. Desnick, Robert J: 12 articles (11/2019 - 06/2002)
4. de Verneuil, Hubert: 11 articles (12/2019 - 02/2005)
5. Millet, Oscar: 10 articles (06/2021 - 01/2009)
6. Gouya, Laurent: 9 articles (11/2021 - 02/2004)
7. Lalanne, Magalie: 9 articles (11/2020 - 01/2008)
8. Moreau-Gaudry, François: 9 articles (11/2020 - 01/2008)
9. Blouin, Jean-Marc: 8 articles (06/2021 - 11/2013)
10. Puy, Hervé: 7 articles (11/2021 - 02/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Erythropoietic Porphyria:
1. Charcoal (Charbon)IBA
2. PorphyrinsIBA
3. Hemoglobins (Hemoglobin)IBA
4. alpha-TocopherolFDA Link
5. Oxygen (Dioxygen)IBA
6. Ascorbic Acid (Vitamin C)FDA LinkGeneric
7. Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
8. EnzymesIBA
9. Heme (Haem)IBA
10. protoporphyrin IXIBA

Therapies and Procedures

1. Oral Administration
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Therapeutics
4. Phototherapy (Light Therapy)
5. Blood Transfusion (Blood Transfusions)