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.
 

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Condition Specific Organizations

Following organizations serve the condition "Variegate 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 "Variegate porphyria" returned 29 free, full-text research articles on human participants. First 3 results:

Variegate porphyria complicated by systemic AA amyloidosis: a case report.
 

Author(s): Yoshiki Tsuchiya, Junichi Hoshino, Tatsuya Suwabe, Keiichi Sumida, Rikako Hiramatsu, Koki Mise, Eiko Hasegawa, Masayuki Yamanouchi, Noriko Hayami, Naoki Sawa, Kenji Arizono, Shigeko Hara, Kenmei Takaichi, Takeshi Fujii, Yoshifumi Ubara

Journal: Amyloid. 2013 Dec;20(4):272-4.

 

We report a Japanese woman with variegate porphyria accompanied by amyloid A (AA) amyloidosis. Arthropathy involving multiple joints occurred at 35 years old and persisted. C-reactive protein was 4.0 mg/dL, but rheumatoid factor was negative. Radiographs did not reveal any loss or ...

Last Updated: 19 Nov 2013

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Quantitative structural insight into human variegate porphyria disease.
 

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

Journal: J. Biol. Chem.. 2013 Apr;288(17):11731-40.

 

Defects in the human protoporphyrinogen oxidase (hPPO) gene, resulting in ~50% decreased activity of hPPO, is responsible for the dominantly inherited disorder variegate porphyria (VP). To understand the molecular mechanism of VP, we employed the site-directed mutagenesis, biochemical ...

Last Updated: 29 Apr 2013

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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

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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 "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

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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

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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

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Symptoms, Diagnosis, and Treatment

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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

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Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 19 Sep 2014

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EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)
 

Status: Recruiting

Condition Summary: Acute Hepatic Porphyria

 

Last Updated: 17 Oct 2014

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