Chapter 163. The Porphyrias

  1. Robert P. Lisak MD, FAAN, FRCP Parker Webber Chair Professor Chair Neurologist-in-Chief Chief4,5,
  2. Daniel D. Truong MD, FAAN Head6,
  3. William M. Carroll MBBS, MD, FRACP, FRCP(E) Head7 and
  4. Roongroj Bhidayasiri MD, FRCP Director8,9
  1. Frank J. E. Vajda MD, FRCP (Ed), FRACP Professor1 and
  2. Carlo Solinas MD Research Fellow2,3

Published Online: 18 MAY 2010

DOI: 10.1002/9781444317008.ch163

International Neurology: A Clinical Approach

International Neurology: A Clinical Approach

How to Cite

Vajda, F. J. E. and Solinas, C. (2009) The Porphyrias, in International Neurology: A Clinical Approach (eds R. P. Lisak, D. D. Truong, W. M. Carroll and R. Bhidayasiri), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444317008.ch163

Editor Information

  1. 4

    Wayne State University School of Medicine, Detroit, MI, USA

  2. 5

    Detroit Medical Center, Harper University Hospital, Detroit, MI, USA

  3. 6

    The Parkinson and Movement Disorder Institute, Memorial Neuroscience Institute, Orange Coast Memorial Medical Center, Fountain Valley, CA, USA

  4. 7

    Sir Charles Gairdner Hospital, Nedlands, Perth, Australia

  5. 8

    Chulalongkorn Comprehensive Movement Disorders Center, Chulalongkorn University Hospital, Bangkok, Thailand

  6. 9

    University of California at Los Angeles, School of Medicine, Los Angeles, CA, USA

Author Information

  1. 1

    Clinical Neuropharmacology, Monash University and Monash Medical Centre Clayton, Victoria, Australia

  2. 2

    Monash University and Medical Centre, Clayton, Victoria, Australia

  3. 3

    University of Siena, Siena, Italy

Publication History

  1. Published Online: 18 MAY 2010
  2. Published Print: 11 SEP 2009

ISBN Information

Print ISBN: 9781405157384

Online ISBN: 9781444317008



  • porphyria, comprising group of largely inherited disorders - inborn errors of metabolism;
  • porphyrias, classified as either hepatic or erythropoietic;
  • classification, based on clinical syndromes - indicating enzyme deficiency and chromosomal location of genetic defect;
  • overall prevalence and incidence of porphyrias - geographically variable;
  • treatment depending on specific disorder - individually variable, depending on differences in precipitating factors;
  • PCT, prevalence of 1/25 000 in British population;
  • Erythropoietic porphyrias (EP), including X-linked sideroblastic anemia, congenital erythropoietic porphyria (CEP), and EPP;
  • genetic heterogeneity, prominent feature of some porphyrias


This chapter contains sections titled:

  • Introduction and overview

  • Classification

  • Geographic and epidemiological considerations

  • The clinical picture

  • Pathogenesis of neurological dysfunction

  • Porphyric attacks caused by antiepileptic medications

  • Differential diagnosis

  • Concluding comments

  • Addendum

  • Acknowledgments

  • Further reading