erythropoietic protoporphyria


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Related to erythropoietic protoporphyria: erythropoietic porphyria

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.

e·ryth·ro·poi·et·ic pro·to·por·phyr·i·a

[MIM*177000]
a benign disorder of porphyrin metabolism due to a deficiency of ferrochelatase associated with enhanced fecal excretion of protoporphyrin, red-purple urine, and increased protoporphyrin IX in red blood cells, plasma, and feces; characterized by acute solar urticaria or more chronic solar eczema develops quickly on exposure to sunlight; autosomal dominant inheritance.

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.

e·ryth·ro·poi·et·ic pro·to·por·phy·ria

(ĕ-rith'rō-poy-et'ik prō'tō-pōr-fir'ē-ă)
A benign disorder of porphyrin metabolism due to a deficiency of ferrochelatase and characterized by enhanced fecal excretion of protoporphyrin and increased protoporphyrin IX in red blood cells, plasma, and feces; solar urticaria or eczema develops on exposure to sunlight.

erythropoietic protoporphyria

A dominant genetic disease caused by a deficiency of the enzyme ferrochelatase that leads to the accumulation of protoporphyrin in the red blood cells. This causes skin hypersensitivity to light with tissue damage from oxygen free radicals causing a red crusted rash. About one sufferer in 20 develops liver failure for which the only resource is transplant. Although the condition is dominant, penetrance is incomplete and the inheritance more closely resembles that of a recessive trait.

erythropoietic

emanating from or pertaining to erythropoiesis.

erythropoietic porphyria
porphyria of genetic origin; a manifestation of involvement of erythropoietic tissue.
erythropoietic protoporphyria
protoporphyria of genetic origin in which the defect in porphyrin metabolism is in the erythropoietic tissue. In the bovine disease the deficiency is of heme synthetase (ferrochelatase).
References in periodicals archive ?
Appendix I (Following Code of Best Practice, ASX) Name of trial CUV039: A Phase III, Multicentre, Double-Blind, Randomized, Placebo-Controlled Study to Confirm the Safety and Efficacy of Subcutaneous Bioresorbable Afamelanotide Implants in Patients with Erythropoietic Protoporphyria (EPP).
Clinuvel's lead compound, SCENESSE (afamelanotide), a first-in-class drug targeting erythropoietic protoporphyria (EPP), is in Phase II and III trials in the US and Europe, and is expected to be filed before the end of 2011 for review by the European Medicines Agency.
Predictable and unpredictable hazards of erythropoietic protoporphyria.
Clinuvel's lead compound, SCENESSE[R] (afamelanotide), a first-in-class drug targeting erythropoietic protoporphyria (EPP), is in Phase II and III trials in the US and Europe, and is expected to be filed before the end of 2011 for review by the European Medicines Agency.
We would agree that an initial fecal analysis may not always be necessary in the evaluation of a patient with photosensitivity, provided that urine and erythrocytes are examined to detect AIP, PCT, and the erythropoietic porphyrias congenital erythropoietic porphyria and erythropoietic protoporphyria and that an initial plasma fluorescence scan is performed to detect VP.
Clinuvel's SCENESSE (afamelanotide) implant is currently in clinical trials for erythropoietic protoporphyria (EPP, or sun intolerance) - Phase III OUS, Phase II US; actinic keratosis (AK) and squamous cell carcinoma (SCC) in organ transplant recipients (skin cancers) - Phase II OUS; and polymorphous light eruption (PLE, commonly known as sun poisoning) - Phase III OUS.
Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity.
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.
Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria.
Genetic analysis provides a more accurate diagnosis and other benefits in AIP, variegate porphyria (VP), hereditary coproporphyria (HCP), and erythropoietic protoporphyria (EPP), provided the patient has one of the known point mutations (3); however, these techniques currently are confined to a few specialized laboratories.
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.
26 [micro]mol/L for PCT and erythropoietic protoporphyria (EPP) patients, respectively, by direct assay], indicating oxygen-free radical inactivating capacity in these porphyrias (Fig.

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