title: Recessive inheritance of erythropoietic protoporphyria with liver failure.
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.
authors.affiliation: Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.
authors.forename: R P
authors.initials: RP
authors.lastname: Sarkany
authors.forename: G J
authors.initials: GJ
authors.lastname: Alexander
authors.forename: T M
authors.initials: TM
authors.lastname: Cox
mesh_terms: D000293:Adolescent; D005260:Female; D005294:Ferrochelatase / Q000235:genetics; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D017093:Liver Failure / Q000150:complications / Q000235:genetics* / Q000601:surgery; D016031:Liver Transplantation; D008297:Male; D009154:Mutation; D017121:Porphyria, Hepatoerythropoietic / Q000150:complications / Q000235:genetics*
chemical_list: D005294:Ferrochelatase