Recessive inheritance of erythropoietic protoporphyria with liver failure

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 develop...

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Bibliographic Details
Published in:The Lancet (British edition) 1994-06, Vol.343 (8910), p.1394-1396
Main Authors: Sarkany, R.P.E., Alexander, G.J.M.A., Cox, T.M.
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Disease transmission
Errors of metabolism
Erythrocytes
Erythropoietic protoporphyria
Families & family life
Female
Ferrochelatase
Ferrochelatase - genetics
Genes, Recessive
Genetics
Heredity
Heterozygote
Heterozygotes
Humans
Liver
Liver cirrhosis
Liver diseases
Liver failure
Liver Failure - complications
Liver Failure - genetics
Liver Failure - surgery
Liver Transplantation
Male
Medical research
Medical sciences
Metabolic diseases
Mutation
Offspring
Parents
Photosensitivity
Porphyria, Hepatoerythropoietic - complications
Porphyria, Hepatoerythropoietic - genetics
Proteins and glycoproteins
Siblings
Transplantation
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Description
Summary: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.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(94)92525-9