The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies

Anne-Moon van Tuyll van Serooskerken, P. Poblete-Gutierrez, J. Frank*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Web of Science)

Abstract

The porphyrias are clinically and genetically heterogeneous metabolic disorders resulting from a predominantly hereditary dysfunction of specific enzymes involved in heme biosynthesis. Today, the clinical, biochemical, and genetic characteristics of this fascinating group of diseases are well established. Recently, different in vitro and animal models have facilitated the investigation of etiopathologic mechanisms in the different types of porphyria and the development of causal treatment strategies such as pathway interference, enzyme replacement, and gene therapy. The continuous progress in basic science has made an invaluable contribution to the rapid translation of discoveries made in the laboratory into new diagnostics and therapeutics in the near future.
Original languageEnglish
Pages (from-to)18-28
JournalSkin Pharmacology and Physiology
Volume23
Issue number1
DOIs
Publication statusPublished - 2010

Keywords

  • Porphyria
  • Heme biosynthesis
  • Photosensitivity
  • Acute porphyria attack
  • Investigative tools
  • Molecular therapeutics

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