[Acute intermittent porphyria].
Acute intermittent porphyria (AIP) is a congenital disease which as its name suggests, runs intermittently. Biochemically it is characterised by over-production of hepatic ALA synthetase (ALA-s), inducible mitochondrial enzyme and an increase in prophyrinic precursors (PBG, ac S-ALA). Clinically it is characterised by an abdominal nervous symptomatology. The primary metabolic error has been identified as a deficiency in enzyme activity which partially blocks haem biosynthesis. During the appearance of clinical manifestations, certain factors are present which have the capacity of inducing hepatic ALA-s production in vitro. Apart from some preventive measures treatment is mainly of symptomatology and complications. More recently the use of ALA-s inhibitors has been introduced.
D000208:Acute Disease; D002746:Chlorpromazine / Q000627:therapeutic use; D003967:Diarrhea / Q000209:etiology; D006418:Heme / Q000096:biosynthesis; D006427:Hemin / Q000627:therapeutic use; D006801:Humans; D007415:Intestinal Obstruction / Q000209:etiology; D008930:Mitochondria, Liver / Q000201:enzymology; D010146:Pain / Q000209:etiology; D011164:Porphyrias / Q000150:complications / Q000151:congenital* / Q000188:drug therapy / Q000378:metabolism / Q000523:psychology; D011166:Porphyrins / Q000096:biosynthesis; D011433:Propranolol / Q000627:therapeutic use
D011166:Porphyrins; D006418:Heme; D006427:Hemin; D011433:Propranolol; D002746:Chlorpromazine
Porfiria acuta intermittente.