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Related Experiment Videos

Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.

G Weinlich1, M O Doss, N Sepp

  • 1Department of Dermatology, University of Innsbruck, Austria. georg.weinlich@uibk.ac.at

Acta Dermato-Venereologica
|January 22, 2002
PubMed
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Variegate porphyria, a rare genetic disorder, can manifest with skin lesions and systemic symptoms. This study identifies a single gene mutation causing both porphyria symptoms and secondary enzyme deficiencies in a family.

Area of Science:

  • Biochemistry
  • Genetics
  • Dermatology

Background:

  • Variegate porphyria (VP) is a rare autosomal dominant disorder caused by protoporphyrinogen oxidase (PPOX) deficiency.
  • Clinical manifestations of VP typically include both neurological/abdominal symptoms (acute intermittent porphyria-like) and skin lesions (porphyria cutanea tarda-like).
  • Lynestrenol intake can trigger cutaneous manifestations in VP patients.

Observation:

  • A 24-year-old woman with VP developed characteristic skin lesions after lynestrenol use, but no neurological symptoms.
  • Diagnostic findings included abnormal urinary coproporphyrin and fecal protoporphyrin levels, and specific plasma fluorescence.
  • Family members, asymptomatic, showed VP-like porphyrin excretion and significantly reduced porphobilinogen deaminase (PBGDA) activity (approx. 50%).

Findings:

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  • Initial data suggested dual genetic defects, mimicking Chester's dual porphyria.
  • Molecular analysis revealed a single missense mutation in the PPOX gene only.
  • PBGDA deficiency in affected family members is likely secondary to the PPOX gene defect.

Implications:

  • This case challenges the assumption of independent genetic defects in families with combined porphyria phenotypes.
  • It highlights the importance of molecular genetic analysis for accurate diagnosis and understanding of porphyria inheritance.
  • The findings suggest a potential mechanism where PPOX deficiency can indirectly impact PBGDA activity.