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...
Topics
- Animals
- Ferrochelatase
- Humans
- Mutation
- Porphyria, Hepatoerythropoietic