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Article

Protoporphyria.

Seminars in liver disease - 1 Jan 1998

Cox T M, Alexander G J, Sarkany R P

Abstract excerpt

Human protoporphyria results from mutations in the ferrochelatase gene. Heritable deficiency of ferrochelatase causes overproduction of protoporphyrin IX, principally in the erythron. Photosensitivity is a universal feature of protoporphyria but hepatic clearance of the hydrophobic protoporphyrin molecule with excretion in bile may lead to precipitation within biliary pathways. Thus cholestatic injury and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 9516682
DOI: 10.1055/s-2007-1007144

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Source receipt: pubmed, retrieved 7 Sept 2026.

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