erythropoietic protoporphyria

(redirected from Ferrochelatase deficiency)
Also found in: Wikipedia.

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 ?
As a result of ferrochelatase deficiency, protoporphyrin is accumulated in various tissues; this accumulation is responsible for the clinical symptoms of light sensitivity and, in rare cases, liver damage (1).
An important exception to these ratios occurs with protoporphyria, in which an inherited ferrochelatase deficiency leads to a massive overproduction and accumulation of EP (11).