Recessive inheritance of erythropoietic protoporphyria with liver failure

@article{Sarkany1994RecessiveIO,
  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},
  year={1994},
  volume={343},
  pages={1394-1396}
}
Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease
TLDR
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. Expand
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
TLDR
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. Expand
The diagnosis and management of erythropoietic protoporphyria.
TLDR
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. Expand
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
TLDR
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. Expand
Reversion of hepatobiliary alterations by bone marrow transplantation in a murine model of erythropoietic protoporphyria
TLDR
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. Expand
La protoporphyrie érythropoïétique : une maladie, deux gènes et trois mécanismes moléculaires
TLDR
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. Expand
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
TLDR
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. Expand
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).Expand
The cutaneous porphyrias.
TLDR
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. Expand
Porphyria. From Sir Walter Raleigh to molecular biology.
TLDR
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. Expand
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