[Uroporphyrinogen-I-synthetase in erythrocytes in acute intermittent porphyria].
The primary genetic defect in acute intermittent porphyria is a decreased uroporphyrinogen I-synthetase [EC.4.3.1.8] activity. As a beginning of a genealogical study of the known families with members suffering from this disease in the People's Republic of Bulgaria, the red cell uroporphyrinogen I-synthetase was determined in 3 families by the method of Mandel et al [8]. Except for the three propositi, an enzyme deficiency was established in 3 latent carriers of the pathological gene, two of whom had normal values of the urinary epsilon-aminolevulinic acid and porphobilinogen. The determination of red cell uroporphyrinogen I-synthetase proved to be a valuable parameter for revealing the latent AIP.
D000293:Adolescent; D000622:Aminolevulinic Acid / Q000652:urine; D000642:Ammonia-Lyases / Q000097:blood*; D002031:Bulgaria; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood*; D008297:Male; D010375:Pedigree; D011162:Porphobilinogen / Q000652:urine; D017118:Porphyria, Acute Intermittent; D011164:Porphyrias / Q000201:enzymology* / Q000235:genetics
D011162:Porphobilinogen; D000622:Aminolevulinic Acid; D011163:Hydroxymethylbilane Synthase; D000642:Ammonia-Lyases
Uroporphyrinogen-I-Synthetase in den Erythrozyten bei akuter intermittierender Porphyrie.