Porphyrias at a glance: Diagnosis and treatment

Research output: Contribution to journalArticlepeer-review

Abstract

Porphyrias are a group of eight rare inherited metabolic disorders of heme biosynthesis pathway. Porphyrias are still underdiagnosed, although examinations of urine and plasma are first-line tests for detecting excess of porphyrins or heme precursors in suspected patients. Diagnosis, particularly for the acute forms, is essential to avoid precipitating factors and the use of triggering drugs. Mutation screening of family members is recommended to identify presymptomatic carriers and to prevent acute attacks. The therapeutic approach should be appropriate regarding specific forms of porphyria and treatment should be started promptly.

Original languageEnglish
Pages (from-to)73-80
Number of pages8
JournalInternal and Emergency Medicine
Volume5
Issue numberSUPPL. 1
DOIs
Publication statusPublished - 2010

Keywords

  • ALA
  • Heme
  • Porphobilinogen
  • Porphyrias
  • Porphyrins

ASJC Scopus subject areas

  • Emergency Medicine
  • Internal Medicine

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