erythrohepatic protoporphyria

erythrohepatic protoporphyria
erythropoietic p.

Medical dictionary. 2011.

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  • erythrohepatic porphyria — porphyria in which abnormal overproduction of porphyrins and precursors occurs in both liver and bone marrow; when this category is used in classifying porphyrias, it usually includes only erythropoietic protoporphyria. Cf. erythropoietic p …   Medical dictionary

  • erythropoietic protoporphyria — n a rare porphyria usu. appearing in young children and marked by excessive protoporphyrin in red blood cells, blood plasma, and feces and by skin lesions resulting from photosensitivity * * * (EPP) an autosomal dominant disorder due to mutation… …   Medical dictionary

  • Porphyria — Any of a group of inherited diseases characterized by skin sensitivity to sunlight and/or by intermittent acute attacks of abdominal and nerve pain. The porphyrias are caused by enzyme defects that trigger the overproduction of porphyrins by the… …   Medical dictionary

  • erythropoietic porphyria — porphyria in which excessive formation of porphyrin or its precursors occurs in bone marrow erythroblasts; usually congenital erythropoietic porphyria, but in some classification schemes (those not including a category erythrohepatic porphyria, q …   Medical dictionary

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