title: [Pathophysiology and diagnosis of acute intermittent porphyria].
abstract: Apart from the determination of preporphyrin and porphyrin in the urine recently enzymatic methods entered the diagnostics of the acute intermittent porphyria. Of particular importance is the decrease of activity of the uroporphyrogen-1-synthetase in the manifest disease as well as in the clinically healthy carriers of genes. Since the clinical picture as well as the values of chemical laboratory examinations in the acute intermittent porphyria are extraordinarily variable, a long-term control of diagnostics and therapy is necessary.
mesh_terms: D000208:Acute Disease; D000622:Aminolevulinic Acid / Q000652:urine; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D011162:Porphobilinogen / Q000652:urine; D011164:Porphyrias / Q000201:enzymology / Q000503:physiopathology* / Q000517:prevention & control / Q000652:urine; D011166:Porphyrins / Q000652:urine
chemical_list: D011166:Porphyrins; D011162:Porphobilinogen; D000622:Aminolevulinic Acid; D011163:Hydroxymethylbilane Synthase
vernacular_title: Zur Pathophysiologie und Diagnostik der akuten intermittierenden Porphyrie.