Variegate porphyria

Common Name(s)

Variegate porphyria

Variegate porphyria is a form of hepatic porphyria most common in the white South African population. This autosomal dominant disorder may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity. The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase. Acute attacks are managed and may be prevented as in acute intermittent porphyria.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 "Variegate porphyria" returned 27 free, full-text research articles on human participants. First 3 results:

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
 

Author(s): Michela Barbaro, Maire Kotajärvi, Pauline Harper, Ylva Floderus

Journal:

 

Variegate porphyria (VP) is an autosomal dominantly inherited hepatic porphyria. The genetic defect in the PPOX gene leads to a partial defect of protoporphyrinogen oxidase, the penultimate enzyme of heme biosynthesis. Affected individuals can develop cutaneous symptoms in sun-exposed ...

Last Updated: 25 Jan 2013

Go To URL
Structural insight into human variegate porphyria disease.
 

Author(s): Xiaohong Qin, Ying Tan, Lele Wang, Zhifang Wang, Baifan Wang, Xin Wen, Guangfu Yang, Zhen Xi, Yuequan Shen

Journal: FASEB J.. 2011 Feb;25(2):653-64.

 

Human protoporphyrinogen IX oxidase (hPPO), a mitochondrial inner membrane protein, converts protoporphyrinogen IX to protoporphyrin IX in the heme biosynthetic pathway. Mutations in the hPPO gene cause the inherited human disease variegate porphyria (VP). In this study, we report ...

Last Updated: 1 Feb 2011

Go To URL
Hepatocellular carcinoma in variegate porphyria: a serious complication.
 

Author(s): Xiaoye Schneider-Yin, Anne-Moon van Tuyll van Serooskerken, Philip Went, Wojciech Tyblewski, Pamela Poblete-Gutiérrez, Eliabeth I Minder, Jorge Frank

Journal: Acta Derm. Venereol.. 2010 Sep;90(5):512-5.

 

Variegate porphyria is an acute hepatic porphyria resulting from a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in haem biosynthesis. Cutaneous symptoms and acute neurovisceral attacks are well-known clinical characteristics of the disease. Less studied, ...

Last Updated: 3 Sep 2010

Go To URL

Reviews from the PubMed Database

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

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
 

Author(s): J Frank, J McGrath, H Lam, R M Graham, J L Hawk, A M Christiano

Journal: J. Invest. Dermatol.. 1998 Apr;110(4):452-5.

 

Homozygous variegate porphyria is a severe skin and neurologic disease manifesting in early infancy, and characterized by markedly reduced levels of the penultimate enzyme in the heme biosynthetic pathway, protoporphyrinogen oxidase. We investigated the molecular basis of variegate ...

Last Updated: 4 May 1998

Go To URL
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
 

Author(s): J Frank, F K Jugert, K Kalka, G Goerz, H F Merk, A M Christiano

Journal: J. Invest. Dermatol.. 1998 Apr;110(4):449-51.

 

The porphyrias are disorders of porphyrin metabolism that result from inherited or acquired aberrations in the control of the heme biosynthetic pathway. Variegate porphyria is characterized by a partial reduction in the activity of protoporphyrinogen oxidase. In this study, we identified ...

Last Updated: 4 May 1998

Go To URL
Homozygous variegate porphyria: an evolving clinical syndrome.
 

Author(s): R J Hift, P N Meissner, G Todd, P Kirby, D Bilsland, P Collins, J Ferguson, M R Moore

Journal: Postgrad Med J. 1993 Oct;69(816):781-6.

 

Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have been studied by the Cape Town unit. Despite this, the homozygous condition has not previously ...

Last Updated: 24 Feb 1994

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Diagnosis of Acute Porphyria
 

Status: Recruiting

Condition Summary: Hereditary Coproporphyria (HCP); Acute Intermittent Porphyria (AIP); Variegate Porphyria (VP)

 

Last Updated: 23 Sep 2013

Go to URL
Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 25 Feb 2014

Go to URL