Induction of Uroporphyrinogen-I Synthase Activity in Mitogen-Stimulated Lymphocytes: Deficient Induction in Acute Intermittent Porphyria Cells

  • Shigeru Sassa
  • Gregory L. Zalar
  • Attallah Kappas


Acute intermittent porphyria (AIP) is a genetic liver disease that is characterized clinically by a disabling neurological-visceral symptom complex and biochemically by the excessive urinary excretion of the porphyrin precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). Two enzymic abnormalities of the heme pathway have been described in the livers of clinically manifest AIP patients1,2,3 as well as an additional defect in the biotransformation of endogenous steroid hormones.4


Pokeweed Mitogen Acute Intermittent Porphyria Acute Intermittent Porphyria Porphobilinogen Deaminase Delta Aminolevulinic Acid 
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  1. 1.
    Tschudy DP, Perlroth MG, Marver HS, Collins A, Hunter G, Rechcigl M: Acute intermittent porphyria: the first “overproduction disease” localized to a specific enzyme. Proc Natl Acad Sci USA 53: 841, 1965.PubMedCrossRefGoogle Scholar
  2. 2.
    Nakao K, Wada O, Kitamura T, Uono K, Urata G: Activity of aminolevulinic acid synthetase in normal and porphyric human livers. Nature 210: 838, 1968.CrossRefGoogle Scholar
  3. 3.
    Strand J, Felsher BF, Redeker AG, Marver HS: Enzymatic abnormality in heme biosynthesis in acute intermittent porphyria. Decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity. Proc Natl Acad Sci USA 67: 1315, 1970.PubMedCrossRefGoogle Scholar
  4. 4.
    Kappas A, Sassa S, Granick S, Bradlow HG: Endocrine-gene interaction in the pathogenesis of acute intermittent porphyria, in Plum F (ed): Brain Dysfunction in Metabolic Disorders. Res Publ Assoc Nerv Ment Dis, Vol. 53, New York, Raven Press, pp. 225–237, 1974.Google Scholar
  5. 5.
    Miyagi K, Cardinal R, Bossenmaier I, Watson CJ: The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals. J. Lab Clin Med 78: 683, 1971.PubMedGoogle Scholar
  6. 6.
    Sassa S, Zalar GL, Kappas A: Deficient induction of uroporphyrinogen-I synthase activity in mitogen-stimulated lymphocytes from patients with acute intermittent porphyria. Trans Am Assoc Physics 90: 157, 1977.Google Scholar
  7. 7.
    Sassa S, Kappas A: Induction of δ-aminolevulinate synthase and porphyrin in cultured liver cells maintained in chemically defined medium. Permissive effects of hormones on induction process. J Biol Chem 252: 2428, 1977.PubMedGoogle Scholar
  8. 8.
    Meyer UA: Intermittent acute porphyria. Clinical and biochemical studies of disordered heme biosynthesis. Enzyme (Basel) 16: 334, 1973.Google Scholar
  9. 9.
    Bonkowsky HL, Tschudy DP, Weinbach EC, Ebert PS, Doherty JM: Porphyrin synthesis and mitochondrial respiration in acute intermittent porphyria: studies using cultured human fibroblasts. J Lab Clin Med 85: 93, 1975.PubMedGoogle Scholar
  10. 10.
    Sassa S, Granick S, Bickers DR, Bradlow HL, Kappas A: Studies in porphyria III. A microassay for uroporphyrinogen synthetase, one of three abnormal enzyme activities in acute intermittent porphyria; and its application to the study of the genetics of this disease. Proc Natl Acad Sci USA 71: 732, 1974.PubMedCrossRefGoogle Scholar

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© Springer-Verlag New York Inc. 1978

Authors and Affiliations

  • Shigeru Sassa
  • Gregory L. Zalar
  • Attallah Kappas

There are no affiliations available

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