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- Title
Recessive inheritance of erythropoietic protoporphyria with liver failure.
- Authors
Sarkany, R P; Alexander, G J; Cox, T M
- Abstract
Erythropoietic protoporphyria is characterised by skin photosensitivity and deficiency of ferrochelatase; fatal liver disease occurs rarely. Transmission is considered to be dominant with incomplete penetrance. We investigated a family in which two siblings with erythropoietic protoporphyria developed hepatic failure that required transplantation. Their healthy parents had partial enzyme deficiency and were each heterozygous for a distinct mutation in a ferrochelatase gene. Both offspring were compound heterozygotes with ferrochelatase deficiency. Recessive transmission of protoporphyria predisposes to severe liver disease in this family. Patients with the recessive form of this disease may be at special risk of hepatic failure.
- Publication
Lancet (London, England), 1994, Vol 343, Issue 8910, p1394
- ISSN
0140-6736
- Publication type
Journal Article
- DOI
10.1016/s0140-6736(94)92525-9