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Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase , leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes) , plasma, skin, and liver . [ 2 ]
X-linked dominant erythropoietic protoporphyria is a relatively mild version of porphyria with the predominant symptom being extreme photosensitivity causing severe itching and burning sensation of the skin due to the buildup of protoporphyrin IX. One possible treatment was discovered when treating an individual with supplemental iron for a ...
X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 characterized by severe photosensitivity. [22] [23] In the autosomal recessive types, anyone who inherit a single gene may become a carrier. Generally they do not have symptoms but may pass the gene on to offspring. [24]
Günther disease is a congenital form of erythropoietic porphyria.The word porphyria originated from the Greek word porphura. Porphura actually means "purple pigment", which, in suggestion, the color that the body fluid changes when a person has Gunther's disease. [3]
An open (single envelope) CFL [12] An encapsulated/closed (double envelope) CFL. Some fluorescent lamps emit ultraviolet radiation. [citation needed] The Health Protection Agency of the United Kingdom has conducted research concluding that exposure to open (single envelope) compact fluorescent lamps (CFLs) for over 1 hour per day at a distance of less than 30 cm can exceed guideline levels as ...
The clinical presentation of AIP is highly variable and non-specific. The patients are typically asymptomatic, with most gene carriers having no family history because the condition had remained latent for several generations.
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