Hepatoerythropoietic porphyria

Common Name(s)

Hepatoerythropoietic porphyria

Hepatoerythropoietic porphyria (HEP) is an inherited cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. It is the autosomal recessive form of familial Porphyria Cutanea Tarda (f-PCT). The manifestations of HEP resemble Congenital Erythropoietic Porphyria (CEP), with symptoms of skin blistering that usually begin in infancy. Treatment may include scheduled phlebotomy and low dose hydroxychloroquine.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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 "Hepatoerythropoietic porphyria" returned 13 free, full-text research articles on human participants. First 3 results:

Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.
 

Author(s): M S Farrag, I Mikula, E Richard, V Saudek, H De Verneuil, P Martásek

Journal: Folia Biol. (Praha). 2015 ;61(6):219-26.

 

Porphyrias are metabolic disorders resulting from mutations in haem biosynthetic pathway genes. Hepatoerythropoietic porphyria (HEP) is a rare type of porphyria caused by the deficiency of the fifth enzyme (uroporphyrinogen decarboxylase, UROD) in this pathway. The defect in the enzymatic ...

Last Updated: 21 Jan 2016

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Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.
 

Author(s): J To-Figueras, J D Phillips, J M Gonzalez-López, C Badenas, I Madrigal, E M González-Romarís, C Ramos, J M Aguirre, C Herrero

Journal: Br. J. Dermatol.. 2011 Sep;165(3):499-505.

 

Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria that results from a deficiency of uroporphyrinogen decarboxylase (UROD). The disease is caused by homoallelism or heteroallelism for mutations in the UROD gene.

Last Updated: 2 Sep 2011

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Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
 

Author(s): Julie L Cantatore-Francis, Jessica Cohen-Pfeffer, Manisha Balwani, Philip Kahn, Herbert M Lazarus, Robert J Desnick, Julie V Schaffer

Journal: Arch Dermatol. 2010 May;146(5):529-33.

 

Hepatoerythropoietic porphyria (HEP) is a rare autosomal recessive disorder resulting from the markedly deficient, but not absent, activity of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD). The disorder typically manifests during infancy or early childhood with ...

Last Updated: 18 May 2010

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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 "Hepatoerythropoietic porphyria" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 26 Jul 2016

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