- 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.
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Acute intermittent porphyria — Infobox Disease Name = Acute intermittent porphyria Caption = DiseasesDB = 171 ICD10 = ICD10|E|80|2|e|70 ICD9 = ICD9|277.1 ICDO = OMIM = 176000 MedlinePlus = eMedicineSubj = med eMedicineTopic = 1880 MeshID = D017118 Acute intermittent porphyria… … Wikipedia
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,  and Plumboporphyria ) 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