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Erythropoietic protoporphyria

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Partial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of simple assays for ferrochelatase activity and cloning of the human ferrochelatase gene promises to shed light on the transmission of this disorder and may allow clinical expression of disease to be predicted. This review surveys the pathological features, genetics and treatment of porphyria.

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  1. Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, CB2 2QQ, UK

    T. M. Cox

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Cox, T.M. Erythropoietic protoporphyria. J Inherit Metab Dis 20, 258–269 (1997). https://doi.org/10.1023/A:1005317124985

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