Protoporphyria

Common Name(s)

Protoporphyria

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Protoporphyria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Protoporphyria" returned 112 free, full-text research articles on human participants. First 3 results:

Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria.
 

Author(s): Takashi Teramura, Makoto Mizuno, Hajime Asano, Eiji Naru, Shigeru Kawara, Ryoichi Kamide, Akira Kawada

Journal: J. Dermatol.. 2018 Feb;45(2):145-149.

 

Erythropoietic protoporphyria is a genetic disease characterized by sensitivity to sunlight caused by the accumulation of protoporphyrin IX. Photoprotection against ultraviolet A and visible light is necessary for erythropoietic porphyria patients because the absorption spectrum of ...

Last Updated: 31 Dec 1969

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Mutation in human elevates levels of aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
 

Author(s): Yvette Y Yien, Sarah Ducamp, Lisa N van der Vorm, Julia R Kardon, Hana Manceau, Caroline Kannengiesser, Hector A Bergonia, Martin D Kafina, Zoubida Karim, Laurent Gouya, Tania A Baker, Hervé Puy, John D Phillips, Gaël Nicolas, Barry H Paw

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2017 09;114(38):E8045-E8052.

 

Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional causative, contributing, and modifier ...

Last Updated: 31 Dec 1969

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Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
 

Author(s): Manisha Balwani, Hetanshi Naik, Karl E Anderson, D Montgomery Bissell, Joseph Bloomer, Herbert L Bonkovsky, John D Phillips, Jessica R Overbey, Bruce Wang, Ashwani K Singal, Lawrence U Liu, Robert J Desnick

Journal: JAMA Dermatol. 2017 Aug;153(8):789-796.

 

Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable degrees of painful phototoxicity that markedly affects quality of life. The clinical variability, determinants of severity, and genotype/phenotype ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Protoporphyria" returned 8 free, full-text review articles on human participants. First 3 results:

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.
 

Author(s): Zhang-Biao Long, Yong-Wei Wang, Chen Yang, Gang Liu, Ya-Li Du, Guang-Jun Nie, Yan-Zhong Chang, Bing Han

Journal: J Zhejiang Univ Sci B. ;17(10):813-820.

 

Erythropoietic protoporphyria (EPP), an autosomal dominant disease, is caused by partial deficiency of ferrochelatase (FECH), which catalyzes the terminal step of heme biosynthesis because of loss-of-function mutations in the FECH gene. To date, only a few cases have been described ...

Last Updated: 31 Dec 1969

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Liver disease and erythropoietic protoporphyria: a concise review.
 

Author(s): María José Casanova-González, María Trapero-Marugán, E Anthony Jones, Ricardo Moreno-Otero

Journal: World J. Gastroenterol.. 2010 Sep;16(36):4526-31.

 

The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of heme. In erythropoietic protoporphyria (EPP), in the majority of cases an autosomal dominant disease, there is a mutation of the gene that encodes ...

Last Updated: 31 Dec 1969

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Erythropoietic protoporphyria.
 

Author(s): Mario Lecha, Hervé Puy, Jean-Charles Deybach

Journal:

 

Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study to Evaluate Efficacy, Safety, and Tolerability of MT‑7117 in Subjects With Erythropoietic Protoporphyria
 

Status: Recruiting

Condition Summary: Erythropoietic Protoporphyria (EPP)

 

Last Updated: 10 Jul 2018

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Oral Iron for Erythropoietic Protoporphyrias
 

Status: Recruiting

Condition Summary: Erythropoietic Protoporphyria; EPP; X-linked Protoporphyria; XLP

 

Last Updated: 31 Jan 2018

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Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 14 Feb 2018

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