erythropoietic porphyria
1Erythropoietic porphyria — can refer to: * X linked sideroblastic anemia (XLSA) * congenital erythropoietic porphyria (CEP) * erythropoietic protoporphyria (EPP)ee also* porphyria * hepatic porphyriaExternal links* …
2erythropoietic 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 …
3erythropoietic 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… …
4congenital erythropoietic porphyria — (CEP) an autosomal recessive porphyria due to mutation in the UROS gene (locus: 10q25.2 q26.3), which encodes uroporphyrinogen III synthase, resulting in increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow… …
5Porphyria — This article is about the medical condition. For other uses, see Porphyry (disambiguation). Porphyria Classification and external resources ICD 10 E80.0 E80.2 …
6Porphyria — 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… …
7porphyria — /pawr fear ee euh, fuy ree euh/, n. Pathol. a defect of blood pigment metabolism in which porphyrins are produced in excess, are present in the blood, and are found in the urine. Also called hematoporphyria. [1920 25; PORPHYR(IN) + IA] * * * ▪… …
8porphyria — n. one of a group of rare disorders due to inborn errors of metabolism in which there are deficiencies in the enzymes involved in the biosynthesis of haem. The accumulation of the enzyme s substrate gives rise to symptoms of the disorder. The… …
9erythropoietic coproporphyria — a rare type of erythropoietic porphyria characterized by mild skin photosensitivity and elevated levels of erythrocyte coproporphyrin III …
10erythropoietic uroporphyria — congenital erythropoietic porphyria …
