| porphyria, erythropoietic | Autosomal recessive porphyria characterised by splenomegaly, photosensitivity, haemolytic anaemia, and the appearance of red urine in early infancy. This condition results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts. (12 Dec 1998) |
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| porphyria, hepatic | Porphyria in which the liver is the site where excess formation of porphyrin or its precursors is found. Porphyria, acute intermittent and porphyria cutanea tarda are types of hepatic porphyria. (12 Dec 1998) |
| porphyria hepatica | A category of porphyria that includes porphyria cutanea tarda, variegate porphyria, and coproporphyria. Synonym: porphyria hepatica. (05 Mar 2000) |
| hepatic porphyria | A category of porphyria that includes porphyria cutanea tarda, variegate porphyria, and coproporphyria. Synonym: porphyria hepatica. (05 Mar 2000) |
| hepatoerythropoietic porphyria | An autosomal recessive disorder in which there is a deficiency or absence of uroporphyrinogen decarboxylase; results in photosensitivity and excessive hepatic production of 8-and 7-carboxylate porphyrins. (05 Mar 2000) |
| South African type porphyria | Porphyria characterised by abdominal pain and neuropsychiatric abnormalities, by dermal sensitivity to light and mechanical trauma, by increased faecal excretion of proto-and coproporphyrin, and by increased urinary excretion of d-aminolevulinic acid, porphobilinogen, and porphyrins; due to a deficiency of protoporphyrinogen oxidase; autosomal dominant inheritance. Synonym: protocoproporphyria hereditaria, South African type porphyria. (05 Mar 2000) |
| squirrel porphyria | Porphyria as an apparently normal metabolic state seen in the Florida fox squirrel (Sciurus niger). (05 Mar 2000) |
| d-aminolevulinate dehydratase porphyria | An inherited disorder in which there is a deficiency of porphobilinogen synthase; d-aminolevulinate levels are elevated, leading to neurological disturbances. Synonym: porphobilinogen synthase porphyria. (05 Mar 2000) |
| swine porphyria | Porphyria as a dominant trait seen in swine. (05 Mar 2000) |
| intermittent acute porphyria | <gastroenterology, haematology> A group of rare inherited metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. It is caused by hepatic overproduction of d-aminolevulinic acid, which has greatly increased urinary excretion and of porphobilinogen, and some increase of uroporphyrin, due to a deficiency of porphobilinogen deaminase. Clinical features: intermittent acute attacks of hypertension, abdominal colic, psychosis, and polyneuropathy, but with no photosensitivity. It is exacerbated by the ingestion of certain drugs such as; barbiturates). Inheritance: autosomal dominant. (20 Sep 2002) |
| ovulocyclic porphyria | Acute episodic exacerbations of porphyria occurring in the premenstrual period. (05 Mar 2000) |
| erythropoietic porphyria | A classification of porphyria that includes congenital erythropoietic porphyria and erythropoietic protoporphyria. (05 Mar 2000) |