Standard Article

Porphyrias

  1. George H Elder

Published Online: 3 MAY 2005

DOI: 10.1038/npg.els.0003872

eLS

eLS

How to Cite

Elder, G. H. 2005. Porphyrias. eLS. .

Author Information

  1. University of Wales College of Medicine, Cardiff, UK

Publication History

  1. Published Online: 3 MAY 2005

This is not the most recent version of the article. View current version (16 FEB 2015)

Abstract

The porphyrias are diseases caused by partial deficiencies of the enzymes of haem biosynthesis, most of which are inherited. Clinically, they are characterized by acute episodes of abdominal pain, sometimes with mental disturbances and neuropathy, or by skin disease, caused by photosensitization by porphyrins, or by both of these separately or together.

Keywords:

  • haem biosynthesis;
  • acute hepatic porphyrias;
  • cutaneous porphyrias