erythropoietic protoporphyria

protoporphyria

[pro″to-por-fir´e-ah] erythropoietic p.erythropoietic protoporphyria (EPP) an autosomal dominant disorder, a form of porphyria" >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.

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.

单词	erythropoietic protoporphyria
释义	DictionarySeeEPP erythropoietic protoporphyria protoporphyria [pro″to-por-fir´e-ah] erythropoietic p.erythropoietic protoporphyria (EPP) an autosomal dominant disorder, a form of porphyria" >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. 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.
随便看	triops triops cancriformis triopsidae trior triorchid triorchidism triorchis triorchism triorganotin triors tri-ortho-cresyl-phosphate triorthocresyl phosphate trios triose triosekinase triose phosphate triosephosphate dehydrogenase triose phosphate isomerase triose-phosphate isomerase triosephosphate isomerase triosephosphateisomerase triosephosphate isomerase deficiency trioses trio sonata triosseus canal