Diagnosis and Treatment of Acute Intermittent Porphyria

References

• Stokvis B J. Over twee zeldzame kleurstoffen in urine van zieken. Ned Tijdschr Geneesk 1889; 13: 409–417
   Google Scholar
• Moore M R, McColl K EL, Rimington C, Goldberg A. Disorders of porphyrin metabolism. Plenum Press, New York 1987
   Google Scholar
• Kappas A, Sassa S, Anderson K E. The porphyrias. The metabolic basis of inherited disease. 5th ed, J B Stanbury, J B Wyngaarden, D S Fredrickson, J L Goldstein, M S Brown. McGraw-Hill, New York 1983; 1301–1384
   Google Scholar
• Heilmeyer L, Clotten R. Zur biochemischen Patho-genese der Porphyria acute intermittens. Klin Wochenschr 1969; 47: 71–74
   PubMedGoogle Scholar
• Strand U, Felsher B F, Redeker A G, Marver H S. Heme biosynthesis in intermittent acute porphyria. Decreased hepatic conversion of porphobilinogen to porphyrins and increased delta-aminolevulinic acid synthetase. Proc Natl Acad Sci USA 1970; 67: 1315–1320
   PubMed Web of Science ®Google Scholar
• Yeung-Laiwah A C, Moore M C, Goldberg A. Pathogenesis of acute porphyria. O J Med 1987; 63: 377–392
   Google Scholar
• Strand U, Meyer U A, Felsher B F, Redeker A G, Marver H S. Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria. J Clin Invest 1972; 51: 2530–2536
   PubMed Web of Science ®Google Scholar
• Miyagi K, Cardinal R, Bossenmaier I, Watson C I. The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals. J Lab Clin Med 1971; 78: 683–695
   PubMed Web of Science ®Google Scholar
• Anderson P M, Desnick R J. Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates. J Biol Chem 1980; 255: 1993–1999
   PubMed Web of Science ®Google Scholar
• Wilson J HP, van den Berg J WO, Brouwers D, Coppens K, van Zellem J. Erythrocyte uro-porphyrinogen-I-synthetase activity in acute intermittent porphyria. Neth J Med 1979; 22: 13–16
   PubMed Web of Science ®Google Scholar
• Doss M. Hepatic porphyrias: pathobiochemical, diagnostic and therapeutic implications. Progress in liver diseases, H Popper, F Schaffner. Grune & Stratton, New York 1982; 573–597
   Google Scholar
• Wetterberg L, Floderus V, Thunell S, et al. Genetic regulation of the red cell uroporphyrinogen I synthetase level in families with acute intermittent porphyria. Clin Genet 1983; 24: 403–406
   PubMed Web of Science ®Google Scholar
• Wilson J HP, De Rooij F WM, Velde K. Acute intermittent porphyria in the Netherlands. Neth J Med 1986; 29: 393–399
   PubMed Web of Science ®Google Scholar
• Mustajoki P. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. Ann Intern Med 1981; 95: 162–166
   PubMed Web of Science ®Google Scholar
• Mustajoki P, Tenhunen R. Variant of acute intermittent porphyria with normal erythrocyte uro-porphyrinogen-I-synthase activity. Eur J Clin Invest 1985; 15: 281–284
   PubMed Web of Science ®Google Scholar
• Grandcham B, De Verneuil H, Beaumont C, Chretien S, Walter O, Nordmann Y. Tissue specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene. Eur J Biochem 1987; 162: 105–110
   PubMedGoogle Scholar
• Chretien S, Dubart A, Beaupain D, et al. Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue specific or housekeeping expression. Proc Natl Acad Sci USA 1988; 85: 6–10
   PubMed Web of Science ®Google Scholar
• Grandchamp B, Picat C, Mignotte V, Wilson J HP, Velde K, Romeo P H, Goossens M I, Nordmann Y. Tissue-specific splicing mutation in acute intermittent porphyria. Proc Natl Acad Sci 1989; 86: 661–664
   PubMed Web of Science ®Google Scholar
• Llewellyn D H, Elder G H, Kalsheker N A, et al. A DN A polymorphism of the human porphobilinogen deaminase gene in acute intermittent porphyria. Lancet 1987; 2: 706–708
   PubMed Web of Science ®Google Scholar
• Lee J S, Anvret M, Lindsten J, et al. DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria. Hum Genet 1988; 79: 379–381
   PubMed Web of Science ®Google Scholar
• Anderson P M, Reddy R M, Anderson K E, Desnick R J. Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunological evidence for heterogeneity of the genetic defect. J Clin Invest 1981; 68: 1–12
   PubMed Web of Science ®Google Scholar
• Desnick R J, Ostasiewicz L T, Tishler P A, Mustajoki P. Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. J Clin Invest 1985; 76: 865–874
   PubMed Web of Science ®Google Scholar
• Mustajoki P, Desnick R J. Genetic heterogeneity in acute intermittent porphyria: characterization and frequency of porphobilinogen deaminase mutations in Finland. Br Med J 1985; 291: 505–509
   PubMed Web of Science ®Google Scholar
• Mustajoki P, Kauppinen R. Natural course of acute hepatic porphyrias. Bull 1st Dermatol S Gallicano 1987; 13: 163–168
   Google Scholar
• Bonkowsky H L, Tschudy D P, Collins A, et al. Repression of the over-production of porphyrin precursors in acute intermittent porphyria by intravenous infusion of hematin. Proc Natl Acad Sci USA 1971; 68: 2725–2729
   PubMed Web of Science ®Google Scholar
• Bissell D M. Treatment of acute hepatic porphyria with hematin. J Hepatol 1988; 6: 1–7
   PubMed Web of Science ®Google Scholar
• Herrick A, McColl K EL, McLellan A, Moore M R, Brodie M J, Goldberg A. Effect of haem arginate therapy on porphyrin metabolism and mixed function oxygenase activity in acute hepatic porphyria. Lancet 1987; 2: 1178–1179
   PubMed Web of Science ®Google Scholar
• Jones R L. Hematin-derived anticoagulant. Generation in vitro and in vivo. J Exp Med 1986; 163: 724–739
   PubMed Web of Science ®Google Scholar
• Tenhunen R, Marver H S, Schmid R. The enzymatic conversion of heme to bilirubin by microsomal heme oxygenase. Proc Natl Acad Sci USA 1968; 61: 748–755
   PubMed Web of Science ®Google Scholar
• Drummond G S, Kappas A. Prevention of neonatal hyperbilirubinemia by tin protoporphyrin IX, a potent competitive inhibitor of heme oxidation. Proc Natl Acad Sci USA 1981; 78: 6466–6470
   PubMed Web of Science ®Google Scholar
• Kappas A, Drummond G S, Manola T, Petmezaki S, Valaes T. Sn-Protoporphyrin use in the management of hyperbilirubinemia in term newborns with direct Boombs-positive BO incompatibility. Pediatrics 1988; 81: 485–497
   PubMed Web of Science ®Google Scholar
• Anderson K E, Simionatto C S, Drummond G S, Kappas A. Disposition of tin-protoporphyrin and suppression of hyperbilirubinemia in humans. Clin Pharmacol Ther 1986; 39: 510–520
   PubMed Web of Science ®Google Scholar
• Berglund L, Angelin B, Blomstrand R, Drummond G S, Kappas A. Sn-Protoporphyrin lowers serum bilirubin levels, decreases biliary bilirubin output, enhances biliary heme excretion and potently inhibits hepatic heme oxygenase activity in normal human subjects. Hepatology 1988; 8: 625–631
   PubMed Web of Science ®Google Scholar
• Galbraith R A, Drummond G S, Kappas A. Sn-Protoporphyrin suppresses chemically induced experimental hepatic porphyria. Potential clinical implications. J Clin Invest 1985; 76: 2436–2439
   PubMed Web of Science ®Google Scholar
• Galbraith R A, Kappas A. Pharmacokinetics of tin-mesoporhyrin in man and the effects of tin-chelated porphyrins on hyperexcretion of heme pathway precursors in patients with acute inducible porphyria. Hepatology 1989; 9: 882–888
   PubMed Web of Science ®Google Scholar
• Anderson K E, Spitz I M, Sassa S, Bardin W, Kappas A. Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinising hormone releasing hormone. N Engl J Med 1984; 311: 643–645
   PubMed Web of Science ®Google Scholar
• Norman R J, Miller J, Miller R P, Joubert S M. Treatment of menstrually induced acute intermittent porphyria by a long-acting gonadotrophin-releasing hormone agonist. Br J Obstet Gynaecol 1988; 95: 192–194
   PubMedGoogle Scholar
• Kauppinen R, Mustajoki P. Acute hepatic porphyria and hepatocellular carcinoma. Br J Cancer 1988; 57: 117–120
   PubMed Web of Science ®Google Scholar
• Lithner F, Wetterberg L. Hepatocellular cancer in patients with acute intermittent porphyria. Acta Med Scand 1984; 215: 271–274
   PubMedGoogle Scholar