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Related Experiment Videos

Variegate porphyria

R E Kirsch1, P N Meissner, R J Hift

  • 1Lennox Eales Porphyria Laboratories, MRC/UCT Liver Research Centre, Department of Medicine, University of Cape Town, South Africa.

Seminars in Liver Disease
|March 28, 1998
PubMed
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Variegate porphyria, an inherited disorder affecting protoporphyrinogen oxidase, presents with skin issues and neurovisceral crises. South African patients show milder, less frequent acute attacks compared to other porphyrias.

Area of Science:

  • Biochemistry
  • Genetics
  • Dermatology
  • Neurology

Background:

  • Variegate porphyria (VP) is an autosomal dominant disorder caused by reduced activity of protoporphyrinogen oxidase.
  • Clinical manifestations include photosensitive skin disease and acute neurovisceral crises.
  • VP has a high prevalence in South Africa, with genetic identification and sequencing of the responsible gene now available.

Purpose of the Study:

  • To describe the clinical presentation and epidemiological characteristics of Variegate porphyria.
  • To investigate the genetic basis and mutation spectrum of VP, particularly in the South African population.
  • To compare the clinical course and severity of VP attacks with acute intermittent porphyria (AIP).

Main Methods:

Related Experiment Videos

  • Review of clinical data from VP patients.
  • Genetic analysis including gene identification and sequencing of protoporphyrinogen oxidase.
  • Comparative analysis of clinical symptoms and attack frequency between VP and AIP.

    • Main Results:

    • Identification and sequencing of the human protoporphyrinogen oxidase gene.
    • Several mutations in the gene have been identified.
    • In South Africa, a shift towards a higher proportion of patients presenting with skin disease or asymptomatic disease, and fewer with acute attacks.

    Conclusions:

    • Variegate porphyria is a genetically defined disorder with distinct clinical features.
    • The South African population exhibits unique epidemiological characteristics regarding VP presentation.
    • Acute attacks in VP appear to be less frequent and milder than those in acute intermittent porphyria.