Pro-oxidant and antioxidant factors in acute intermittent porphyria: Family studies

E. Rocchi, P. Ventura, A. Ronzoni, M. C. Rosa, C. Gozzi, L. Marri, G. Casalgrandi, M. D. Cappellini

Research output: Contribution to journalArticlepeer-review


Given the crucial role of iron and porphyrins in oxidative cellular damage in the chronic porphyrias, we undertook an extensive study in with acute porphyrias to evaluate the possible role of similar oxidative damage in these diseases, whose natural history is often also complicated by neoplastic evolution. Four unrelated patients with acute intermittent porphyria (AIP) were studied together with 37 members of four different families. Aminolevulinic acid and porphobilinogen were measured in urine, and porphyrins in urine, plasma and stools. The activity of the congenitally deficient enzyme, porphobilinogen deaminase, and the concentrations of plasma iron, transferrin, ferritin, and various antioxidants (ascorbic acid, retinol, tocopherol, α- and β-carotene, by a personal HPLC method) and the urinary and plasma metabolites of nitrous oxide were also assayed. The results showed no relationship between the observed increase of porphyrin metabolites and the presence of markers of oxidative damage or the decrease of circulating antioxidants: however, when such a decrease was registered, it depended on spontaneous or iatrogenic iron accumulation. We conclude that family screening, recommended for the identification of AIP carriers, must also include evaluation of iron stores with a view to preventing the oxidative damage and in order to forestall the neoplastic evolution of the disease.

Original languageEnglish
Pages (from-to)251-266
Number of pages16
JournalJournal of Inherited Metabolic Disease
Issue number2
Publication statusPublished - 2004

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology


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