Recessive inheritance of erythropoietic protoporphyria with liver failure

  title={Recessive inheritance of erythropoietic protoporphyria with liver failure},
  author={R. P. E. Sarkany and Graeme J Alexander and T. M. Cox},
  journal={The Lancet},
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
Although co-inheritance of an IVS3-48C allele appears to explain the occurrence of photosensitivity in most EPP families, alternative mechanisms may reduce FECH activity to below threshold activity in some patients.
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
The findings show that palmar keratoderma is a clinical indicator of recessive EPP, identify a phenotype that occurs in 38% of reported families with recessives EPP that to the authors' knowledge is previously unreported, and suggest that patients with this phenotype may carry a lower risk of liver disease than other patients with recessiveErythropoietic protoporphyria.
The diagnosis and management of erythropoietic protoporphyria.
Erythropoietic protoporphyria is thought to be the second most common porphyria seen in clinical practice and can lead to both cutaneous manifestations as well as derangement in hepatic function in a minority of patients.
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
Overall, EPP looks like a Mendelian disorder, in which the prevalence of overt disease depends mainly on the frequency of a single common single-nucleotide polymorphism resulting from a unique mutational event that occurred 60,000 years ago.
Reversion of hepatobiliary alterations by bone marrow transplantation in a murine model of erythropoietic protoporphyria
Interestingly, in very young animals, bone marrow transplantation can prevent hepatobiliary complications as well as hepatocyte alterations and partially reverse protoporphyrin accumulation in the liver.
La protoporphyrie érythropoïétique : une maladie, deux gènes et trois mécanismes moléculaires
Differences in the frequency of this single common SNP account for the prevalence of overt EPP in different countries and for the absence of E PP in Black Africans.
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
The results establish genetic heterogeneity in the most severe phenotype of protoporphyria, however, the gene mutations found share the property of causing a major structural alteration in the ferrochelatase protein.
Liver disease in erythropoietic protoporphyria: insights and implications for management
The porphyrias are a group of disorders caused by defects in haem biosynthesis (fig 1). Of the seven main types of porphyria recognised, two are characterised by associated liver disease (table 1).
The cutaneous porphyrias.
Now that chromosomal assignments for all the genes of the defective enzymes have been mode, prenatal diagnosis is possible for congenital erythropoietic porphyria, and in vitro gene therapy has been successfully performed for congenitals erythrospermia and erythroietic protoporphyria.
Porphyria. From Sir Walter Raleigh to molecular biology.
It is now clear that some of these patients suffer from a different recessively transmitted form of the disease: this finding may make it possible to identify these patients at an earlier stage.