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[Hepato-erythropoietic porphyria]

O Boudghène-Stambouli1, A Mérad-Boudia

  • 1Dermato-Vénéréologie, Service du Centre Hospitalo-Universitaire de Tlemcen, Algérie.

Annales De Dermatologie Et De Venereologie
|January 1, 1995
PubMed
Summary

Hepatoerythropoietic porphyria, a rare genetic disorder, results from uroporphyrinogen decarboxylase deficiency. This case highlights the condition's variable severity and potential for different mutations.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Hepatoerythropoietic porphyria (HEP) is a rare congenital disorder.
  • It presents biochemically similar to porphyria cutanea tarda.
  • HEP is caused by a defect in the uroporphyrinogen decarboxylase (UROD) enzyme.

Observation:

  • A 3-year-old girl exhibited bloody urine from birth and photosensitivity with bullae at one year.
  • Clinical findings included scarring, facial hypertrichosis, and abnormal pigmentation.
  • Elevated urinary uroporphyrin and coproporphyrin, and erythrocyte protoporphyrin were noted.

Findings:

  • Uroporphyrinogen decarboxylase activity in the patient was 37.5% of control.
  • The mother showed reduced enzyme activity (82.5% of control), while the father had normal levels.
  • This case demonstrates a less severe presentation of HEP than previously reported.

Implications:

  • The findings support the heterogeneous nature of hepatoerythropoietic porphyria.
  • Genetic variations or mutations may influence disease severity.
  • Further research into UROD mutations is warranted to understand disease variability.

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