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Hepatoerythropoietic Porphyria
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
Synonyms(3)
| Synonym |
|---|
| Hepatoerythropoietic Porphyria |
| Porphyria, Erythrohepatic |
| Porphyria, Hepatoerythropoietic |
Research
Studies (51)
| Timeframe | Studies, This Condition (%) | All Conditions % |
|---|
| pre-1990 | 0 (0.00) | 23.3326 |
| 1990's | 28 (54.90) | 12.5806 |
| 2000's | 17 (33.33) | 18.1394 |
| 2010's | 2 (3.92) | 28.8240 |
| 2020's | 0 (0.00) | 9.53 |
The breast cancer resistance protein protects against a major chlorophyll-derived dietary phototoxin and protoporphyria.Proceedings of the National Academy of Sciences of the United States of America, , Nov-26, Volume: 99, Issue:24, 2002
Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria.Current biology : CB, , Aug-24, Volume: 10, Issue:16, 2000
Light-induced deposits in Bruch's membrane of protoporphyric mice.Archives of ophthalmology (Chicago, Ill. : 1960), , Volume: 111, Issue:1, 1993
Erythrocytes-the 'house elves' of photodynamic therapy.Photochemical & photobiological sciences : Official journal of the European Photochemistry Association and the European Society for Photobiology, , Volume: 3, Issue:11-12
In vivo oxygen radical generation in the skin of the protoporphyria model mouse with visible light exposure: an L-band ESR study.The Journal of investigative dermatology, , Volume: 122, Issue:6, 2004
Mdr P-glycoproteins are not essential for biliary excretion of the hydrophobic heme precursor protoporphyrin in a griseofulvin-induced mouse model of erythropoietic protoporphyria.Hepatology (Baltimore, Md.), , Volume: 35, Issue:2, 2002
Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria.Gastroenterology, , Volume: 117, Issue:3, 1999
Alteration of mRNA levels of delta-aminolevulinic acid synthase, ferrochelatase and heme oxygenase-1 in griseofulvin induced protoporphyria mice.Journal of dermatological science, , Volume: 19, Issue:3, 1999
Light-induced deposits in Bruch's membrane of protoporphyric mice.Archives of ophthalmology (Chicago, Ill. : 1960), , Volume: 111, Issue:1, 1993
Erythropoietic protoporphyria: treatment with antioxidants and potential cure with gene therapy.Methods in enzymology, , Volume: 319, 2000
Therapeutic options for erythropoietic protoporphyria.The British journal of dermatology, , Volume: 142, Issue:4, 2000
The treatment of erythropoietic protoporphyria.Seminars in liver disease, , Volume: 18, Issue:4, 1998
Erythropoietic protoporphyria treated with narrow-band (TL-01) UVB phototherapy.The Australasian journal of dermatology, , Volume: 39, Issue:3, 1998
Beta-carotene serum levels in patients with erythropoietic protoporphyria on treatment with the synthetic all-trans isomer or a natural isomeric mixture of beta-carotene.Journal of photochemistry and photobiology. B, Biology, , Volume: 33, Issue:2, 1996
Photo(chemo)therapy and general management of erythropoietic protoporphyria.Dermatology (Basel, Switzerland), , Volume: 190, Issue:4, 1995
Carotenoids in erythropoietic protoporphyria and other photosensitivity diseases.Annals of the New York Academy of Sciences, , Dec-31, Volume: 691, 1993
Recurrent painful hand crisis in a four-year-old girl, revealing an erythropoietic protoporphyria.European journal of dermatology : EJD, , Volume: 8, Issue:7
Long-term treatment of erythropoietic protoporphyria with cysteine.Photodermatology, photoimmunology & photomedicine, , Volume: 18, Issue:6, 2002
Erythropoietic protoporphyria.The British journal of dermatology, , Volume: 134, Issue:5, 1996
A double-blind study of cysteine photoprotection in erythropoietic protoporphyria.Photodermatology, photoimmunology & photomedicine, , Volume: 10, Issue:6, 1994
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.Molecular genetics and metabolism, , Volume: 128, Issue:3, 2019
Modern diagnosis and management of the porphyrias.British journal of haematology, , Volume: 135, Issue:3, 2006
Aortic valve replacement in a patient with erythropoietic protoporphyria.The Annals of thoracic surgery, , Volume: 75, Issue:3, 2003
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.Cellular and molecular biology (Noisy-le-Grand, France), , Volume: 48, Issue:8, 2002
Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation.Transplantation, , Feb-15, Volume: 73, Issue:3, 2002
The value of intravenous heme-albumin and plasmapheresis in reducing postoperative complications of orthotopic liver transplantation for erythropoietic protoporphyria.Transplantation, , Mar-27, Volume: 67, Issue:6, 1999
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.American journal of human genetics, , Volume: 58, Issue:2, 1996
Porphyria in childhood.Seminars in dermatology, , Volume: 14, Issue:1, 1995
The porphyrias.Clinics in dermatology, , Volume: 14, Issue:4
Oral cholestyramine is not an effective treatment for uncomplicated erythropoietic protoporphyria.Journal of the American Academy of Dermatology, , Volume: 67, Issue:6, 2012
[Erythropoietic protoporphyria].Ryoikibetsu shokogun shirizu, , Issue:19 Pt 2, 1998
Cholestyramine orally administered to patients with erythropoietic protoporphyria results in urinary excretion of protoporphyrin: to be explained by the Herbst-Volkheimer effect?Clinica chimica acta; international journal of clinical chemistry, , Jan-16, Volume: 233, Issue:1-2, 1995
Protein Targets (0)