Erythropoietic protoporphyria

  title={Erythropoietic protoporphyria},
  author={T. M. Cox},
  journal={Journal of Inherited Metabolic Disease},
  • T. Cox
  • Published 1 June 1997
  • Medicine
  • Journal of Inherited Metabolic Disease
Partial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of simple assays for ferrochelatase activity and cloning of the human ferrochelatase gene promises to shed light on the transmission of this disorder and… Expand
4 Citations
Inherited genetic late‐onset erythropoietic protoporphyria: A systematic review of the literature
It is emphasized that a diagnosis of inherited genetic EPP should not be ruled out in adults with new-onset photosensitive manifestations, and the distinct features of IGLO EPP are described. Expand
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Mouse models of the human porphyrias have proven useful for investigations of disease pathogenesis and to facilitate the development of new therapeutic approaches, and have been particularly useful for evaluation of bone marrow transplantation and hematopoietic stem cell (HSC)-based gene therapy approaches. Expand
Liver involvement in patients with erythropoietic protoporphyria: retrospective analysis of clinicopathological features of 5 cases.
Erythropoietic protoporphyria (EPP) is a rare inherited disease whose morbidity is about 1:75,000 to 1:200,000. It is caused by the deficiency of porphyrin ferrochelatase (FECH). Liver involvement inExpand


Diminished erythroid ferrochelatase activity in protoporphyria.
In two patients with protoporphyria the enzymatic synthesis of aminolevulinic acid and prophobilinogen in erythroid tissue was normal and ferrochelatase activity in peripheral blood reticulocytes was less than 10% of controls. Expand
Genetic aspects of erythropoietic protoporphyria
The presence of an occasional fluorescent red blood cell combined with normal protoporphyrin levels was observed in half of the children and sibs of patients and one of their parents; this phenomenon is therefore inherited as an autosomal dominant character. Expand
Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria.
The ferrochelatase gene in an 11-year-old female with protoporphyria is examined and it is found that she is heterozygous for a mutation at a conserved residue in the exon 3 donor splice site consensus sequence (T(+2)-->G). Expand
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients.
A novel mutation was identified by direct sequencing of genomic polymerase chain reaction products in each of four Finnish erythropoietic protoporphyria families, resulting in a dramatically decreased steady-state level of the allelic transcript. Expand
Molecular defects in erythropoietic protoporphyria with terminal liver failure
Two new genotypes of EPP are presented, including one with liver failure, a rare and fatal form of E PP, and two new mutations in the ferrochelatase gene are identified in two Swiss patients with erythropoietic protoporphyria. Expand
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
The molecular basis of the ferrochelatase defect responsible for human Erythropoietic Protoporphyria (EPP), a usually autosomal dominant disease, was investigated in a family with an apparently homozygous patient, showing a genetic heterogeneity in EPP. Expand
A molecular defect in human protoporphyria.
Se sequencing of ferrochelatase cDNAs from a patient with protoporphyria revealed a single point mutation resulting in the conversion of a Phe(TTC) to a Ser(TCC) in the carboxy-terminal end of the protein, F417S. Expand
Molecular defect in human erythropoietic protoporphyria with fatal liver failure
The molecular basis of ferrochelatase in a Japanese patient with erythropoietic protoporphyria (EPP), complicated by fatal liver failure, is investigated, and a novel point mutation in the ferroChelatase gene is defined. Expand
Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families.
The findings suggest that EPP is not transmitted as a simple dominant trait and that inheritance of more than one gene may be required for disease expression. Expand
Burst-forming units-erythroid from erythropoietic protoporphyria patients fluoresce under 405 nm light.
Erythropoietic protopoph~a W P ) is a rare genetic disease, the symptom of which are itching or buming sensations in light-exposed skin. Expand