protoporphyria


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protoporphyria

 [pro″to-por-fir´e-ah]
erythropoietic protoporphyria (EPP) an autosomal dominant disorder, a form of erythropoietic porphyria, characterized by increased levels of protoporphyrin in the erythrocytes, plasma, liver, and feces and a wide variety of photosensitive skin changes, ranging from a burning or pruritic sensation to erythema, plaquelike edema, and wheals.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

pro·to·por·phyr·i·a

(prō'tō-pōr-fir'ē-ă),
Enhanced fecal excretion of protoporphyrin.
Farlex Partner Medical Dictionary © Farlex 2012

pro·to·por·phyr·i·a

(prō'tō-pōr-fir'ē-ă)
Enhanced fecal excretion of protoporphyrin.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
References in periodicals archive ?
The active treatment also markedly improved every aspect of patients' quality of life, as measured by the Erythropoietic Protoporphyria Quality-of-Life questionnaire.
Deybach, "Erythropoietic protoporphyria," Orphanet Journal of Rare Diseases, vol.
This South African family, and several others in Europe, were shown to have a novel disease now termed X-linked protoporphyria. (19) This arises pathogenetically from a gain-of-function mutation in the erythroid form of ALA synthase, which results in a greatly increased flux of porphyrins through the haem biosynthetic pathway; ferrochelatase becomes rate-limiting (probably at the level of iron availability) and free and zinc protoporphyrin accumulates, hence the resemblance to classic EPP, where the accumulation of protoporphyrin is caused by an inherited deficiency of ferrochelatase.
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.
Erythropoietic protoporphyria (EPP) is an autosomal dominant defect in haem synthesis caused by defective ferrochelatase; the terminal enzyme.
GOTHENBURG, SWEDEN -- A resorbable subcutaneous implant of afamelanotide significantly reduced painful phototoxic attacks in patients with erythropoietic protoporphyria in a year-long multinational clinical trial.
It took two years for medics to diagnose her with erythropoietic protoporphyria, which affects fewer than 400 people in the UK.
Clinuvel Pharmaceuticals achieved positive results from a Phase III trial of Scenesse in patients with erythropoietic protoporphyria (EPP), showing that the drug has the ability to reduce and prevent painful phototoxic reactions.
Tia's incurable condition was noticed at one -though doctors disagreed on a diagnosis before she was found to have rare erythropoietic protoporphyria (EPP).
Results released today from a Phase III trial of the drug SCENESSE (R), conducted by Melbourne-based Clinuvel Pharmaceuticals Limited (ASX:CUV) (PINK:CLVLY), have shown that the drug has the ability to reduce and prevent painful phototoxic reactions experienced by patients with erythropoietic protoporphyria (EPP).
Loss of hereditary uterine protoporphyria through chromosomal rearrangement in mutant Rhode Island Red hens.