acute intermittent porphyria

acute intermittent porphyria
(AIP) an autosomal dominant hepatic porphyria caused by mutation in the HMBS gene (locus: 11q23.3), which encodes hydroxymethylbilane synthase; it is manifested by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances and by excessive amounts of δ-aminolevulinic acid and porphobilinogen in the urine. Called also acute p., intermittent acute p., Swedish p., and pyrroloporphyria.

Medical dictionary. 2011.

См. также в других словарях:

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  • 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

  • intermittent acute porphyria — acute intermittent p …   Medical dictionary

  • acute porphyria — acute intermittent p …   Medical dictionary

  • hepatic porphyria — porphyria in which the excess formation of porphyrin or its precursors is found in the liver; it includes acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria …   Medical dictionary

  • Variegate porphyria — Classification and external resources Protoporphyrinogen IX ICD 10 E …   Wikipedia

  • Aminolevulinic acid dehydratase deficiency porphyria — (also known as Doss porphyria, [1] and Plumboporphyria [1]) is a cutaneous condition, disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble those encountered in acute intermittent… …   Wikipedia


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