George H Elder, University of Wales College of Medicine, Cardiff, UK
Published online: May 2005
DOI: 10.1038/npg.els.0003872
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
| References | |
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| Further Reading | |
| Elder GH, Hift RJ and Meissner PN (1997) The acute porphyrias. Lancet 349: 1613–1617. | |
| Jenkins T (1996) The South African malady. Nature Genetics 13: 7–9. | |
| book Moore MR, McColl KEL, Rimington C and Goldberg A (1987) Disorders of Porphyrin Metabolism. New York: Plenum. | |
| book Rohl JCG, Warren M and Hunt D (1998) Purple Secret: Genes, “Madness” and the Royal Houses of Europe. London: Bantam Press. | |
| book Schmid R (ed.) (1998) "The porphyrias". Seminars in Liver Disease 18: 1–101. | |
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