Medical dictionary. 2011.
Erythropoietic porphyria — can refer to: * X linked sideroblastic anemia (XLSA) * congenital erythropoietic porphyria (CEP) * erythropoietic protoporphyria (EPP)ee also* porphyria * hepatic porphyriaExternal links* … Wikipedia
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
congenital 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… … Medical dictionary
Porphyria — This article is about the medical condition. For other uses, see Porphyry (disambiguation). Porphyria Classification and external resources ICD 10 E80.0 E80.2 … Wikipedia
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
porphyria — /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] * * * ▪… … Universalium
porphyria — 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… … The new mediacal dictionary
erythropoietic coproporphyria — a rare type of erythropoietic porphyria characterized by mild skin photosensitivity and elevated levels of erythrocyte coproporphyrin III … Medical dictionary
erythropoietic uroporphyria — congenital erythropoietic porphyria … Medical dictionary
Erythropoietic protoporphyria — Infobox Disease Name = Erythropoietic protoporphyria Caption = DiseasesDB = 4484 ICD10 = ICD10|E|80|0|e|70 (ILDS E80.010) ICD9 = ICD9|277.1 ICDO = OMIM = 177000 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 473 MeshName =… … Wikipedia
