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MeSH Review:

Porphyria, Hepatoerythropoietic

Fontanellas, A. et al., Elder, G.H. et al., McManus, J.F. et al., Toback, A.C. et al., de Verneuil, H. et al., et al.

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Disease relevance of Porphyria, Hepatoerythropoietic

Uroporphyrinogen decarboxylase deficiency in man is responsible for familial porphyria cutanea tarda and hepatoerythropoietic porphyria [1].

High impact information on Porphyria, Hepatoerythropoietic

Epoetin for severe anemia in hepatoerythropoietic porphyria [2].
Morpholinos targeted to the uroporphyrinogen decarboxylase gene result in embryos with hepatoerythropoietic porphyria [3].
Hepatoerythropoietic porphyria is caused by a marked deficiency in the activity of uroporphyrinogen decarboxylase, an enzyme that is essential for heme biosynthesis [4].
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells [5].

Biological context of Porphyria, Hepatoerythropoietic

Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity [6].

Anatomical context of Porphyria, Hepatoerythropoietic

Uroporphyrinogen decarboxylase levels were measured in haemolysed whole blood or fibroblasts from 3 unrelated patients with hepatoerythropoietic porphyria (HEP) and in 4 unrelated patients with familial porphyria cutanea tarda, a condition in which the enzyme is defective [7].
All mutations were observed in conjunction with decreased erythrocyte UROD and clinical familial porphyria cutanea tarda (fPCT), (four families) or hepatoerythropoietic porphyria (HEP), (one family) [8].

Gene context of Porphyria, Hepatoerythropoietic

Hepatoerythropoietic porphyria (HEP) is an inherited metabolic disorder characterized by the accumulation of porphyrins resulting from a deficiency in uroporphyrinogen decarboxylase (UROD) [5].

References

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. de Verneuil, H., Grandchamp, B., Beaumont, C., Picat, C., Nordmann, Y. Science (1986) [Pubmed]
Epoetin for severe anemia in hepatoerythropoietic porphyria. Horina, J.H., Wolf, P. N. Engl. J. Med. (2000) [Pubmed]
Effective targeted gene 'knockdown' in zebrafish. Nasevicius, A., Ekker, S.C. Nat. Genet. (2000) [Pubmed]
Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. Toback, A.C., Sassa, S., Poh-Fitzpatrick, M.B., Schechter, J., Zaider, E., Harber, L.C., Kappas, A. N. Engl. J. Med. (1987) [Pubmed]
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells. Fontanellas, A., Mazurier, F., Moreau-Gaudry, F., Belloc, F., Ged, C., de Verneuil, H. Blood (1999) [Pubmed]
Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity. Kószó, F., Elder, G.H., Roberts, A., Simon, N. Br. J. Dermatol. (1990) [Pubmed]
Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? Elder, G.H., Smith, S.G., Herrero, C., Lecha, M., Mascaro, J.M., Muniesa, A.M., Czarnecki, D.B., Brenan, J., Poulos, V., DE Salamanca, R.E. Lancet (1981) [Pubmed]
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. McManus, J.F., Begley, C.G., Sassa, S., Ratnaike, S. Blood (1996) [Pubmed]

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