Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria.
We measured the activity of the enzyme porphobilinogen deaminase in red blood cells of 222 persons. Ninety-seven of 107 patients with acute intermittent porphyria had enzyme activity below the normal range, whereas 55 of 56 patients with other types of porphyria had normal activity. This underscores the utility of this test in confirming the diagnosis of acute intermittent porphyria. Measurement of enzyme activity in 41 families with acute intermittent porphyria demonstrated that deficient activity is inherited as an autosomal dominant trait. Many latent carriers of the genetic defect were identified by family studies, permitting appropriate precautions to avoid potentially lethal porphyric attacks.
D000208:Acute Disease; D000642:Ammonia-Lyases / Q000097:blood*; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology*; D006580:Genetic Carrier Screening; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood* / Q000235:genetics; D011164:Porphyrias / Q000175:diagnosis* / Q000235:genetics
D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases