[Acute intermittent porphyria. Detection of asymptomatic carriers of the genetic defect].
Measurement of uroporphyrinogen I synthetase activity in red blood cells indicates a 40-50 p.cent decrease in patients with intermittent acute porphyria (30 +/- 6 units) when compared to normal control subjects (50 +/- 8 units). This measurement makes relatively easy the detection of asymptomatic carriers of the genetic defect, as early as the first day of life.
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D000622:Aminolevulinic Acid / Q000652:urine; D000642:Ammonia-Lyases / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D003306:Coproporphyrins / Q000652:urine; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood*; D007223:Infant; D008297:Male; D008875:Middle Aged; D011162:Porphobilinogen / Q000652:urine; D011164:Porphyrias / Q000175:diagnosis / Q000235:genetics*; D014578:Uroporphyrins / Q000652:urine
D003306:Coproporphyrins; D014578:Uroporphyrins; D011162:Porphobilinogen; D000622:Aminolevulinic Acid; D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases
Porphyrie aiguë intermittente. Détection des porteurs asymptomatiques de la tare