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Porphobilinogen-synthase (δ-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria

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Summary

Two male patients aged 23 and 25 years with intermittent acute, frequently repeated porphyria syndromes presented an almost total deficiency of porphobilinogen-synthase [(PBG-S); synonym:δ-aminolevulinic acid dehydratase] in peripheral eryhtorcytes. PBG-S was investigated in bone marrow cells obtained by sternal puncture. A minimal enzyme activity of <3% of controls was established. Specific activity and protoporphyrin concentration decreased considerably during the course of erythropoiesis. Both patients are homozygous gene carriers; their parents (father and mother) as well as most of their brothers and sisters are heterozygotes with a PBG-S deficiency of ∼50% of controls. All people with PBG-S deficiency are especially endangered by alcohol intake and lead exposure, because alcohol and lead toxically inhibit PBG-S.

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References

  1. Anderson KE, Sassa S, Peterson CM, Kappas A (1977) Increased erythrocyte uroporphyrinogen-I-synthetase,δ-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias. Am J Med 63:359–364

    Google Scholar 

  2. Berlin A, Schaller KH (1974) European standardized method for the determination ofδ-aminolevulinic acid dehydratase activity in blood. J Clin Chem Clin Biochem 12:389–390

    Google Scholar 

  3. Bird TD, Hamernyik P, Nutter JY, Labbè RF (1979) Inherited deficiency ofδ-aminolevulinic acid dehydratase. Am J Hum Genet 31:662–668

    Google Scholar 

  4. Brandt A, Doss M (1981) Hereditary porphobilinogen synthase deficiency in human associated with acute hepatic porphyria. Hum Genet 58:194–197

    Google Scholar 

  5. Calabrese EJ (1978) Will elevated levels of lead exposure precipitate clinical symptoms of porphyria in individuals with the latent condition? Med Hypotheses 4:282–289

    Google Scholar 

  6. Dagg JH, Goldberg A, Lochhead A, Smith JA (1965) The relationship of lead poisoning to acute intermittent porphyria. Q J Med. New Series XXXIV, 134:163–175

    Google Scholar 

  7. Doss M (1974) Porphyrins and porphyrin precursors. In: Curtius HCH, Roth M (eds) Clinical biochemistry. De Gruyter, Berlin New York, pp 1325–1371

    Google Scholar 

  8. Doss M (1978) Relationships between acute hepatic porphyrias due to genetic variability of primary enzyme defects and limiting function of uroporphyrinogen synthase. Int J Biochem 9:911–916

    Google Scholar 

  9. Doss M (1979) Haematological disturbances of porphyrin metabolism. In: Gross R, Hellriegel KP (eds) Strategies in clinical haematology. Springer, Berlin Heidelberg New York, pp 97–109

    Google Scholar 

  10. Doss M, Becker U, Sixel F, Geisse S, Solcher H, Schneider J, Kufner G, Schlegel H, Stoeppler M (1982) Persistent protoporphyrinemia in hereditary porphobilinogen synthase (δ-aminolevulinic acid dehydrase) deficiency under low lead exposure. A new molecular basis for the pathogenesis of lead intoxication. Klin Wochenschr 60:599–606

    Google Scholar 

  11. Doss M, Müller WA (1982) Acute lead poisoning with underlying inherited porphobilinogen synthase deficiency. Blut 45:131–139

    Google Scholar 

  12. Doss M, Schneider J, Tiepermann von R, Brandt A (1982) New type of acute porphyria with porphobilinogen synthase (δ-aminolevulinic acid dehydratase) defect in the homozygous state. Clin Biochem 15:52–55

    Google Scholar 

  13. Doss M, Tiepermann von R (1977) Clinical biochemistry of acute lead poisoning. In: Brown SS (ed) Proc symp on clin chemistry and chem toxicology of toxic metals. Elsevier North-Holland, Amsterdam, pp 183–186

    Google Scholar 

  14. Doss M, Tiepermann von R, Schneider J (1980) Acute hepatic porphyria syndrome with porphobilinogen synthase defect. Int J Biochem 12:823–826

    Google Scholar 

  15. Doss M, Tiepermann von R, Schneider J, Schmid H (1979) New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. Klin Wochenschr 57:1123–1127

    Google Scholar 

  16. Krasner N, Moore MR, Thompson GG, McIntosh W, Goldberg A (1974) Depression of erythrocyteδ-aminolevulinic acid dehydratase activity in alcoholics. Clin Sci Mol Med 46:415–418

    Google Scholar 

  17. Lamola AA, Yamane T (1974) Zine protoporphyrin in the erythrocytes of patients with lead intoxication and iron deficiency anemia. Science 186:936–938

    Google Scholar 

  18. Lowry CH, Rosebrough NI, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265–275

    Google Scholar 

  19. Sassa S, Granick S, Kappas A (1975) Effect of lead and genetic factors on heme biosynthesis in the human red cell. Ann NY Acad Sci 244:419–440

    Google Scholar 

  20. Schwartz S, Stephenson B, Ruth G (1978) Hereditary bovine protoporphyria, a “Total Body” deficiency of ferrochelatase: Some basic distinctions from hypochromic anemias. In: Doss M (ed) Diagnosis and therapy of porphyrias and lead intoxication. Springer, Berlin Heidelberg New York, pp 262–265

    Google Scholar 

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Authors and Affiliations

  1. Klinische Biochemie Fachbereich Humanmedizin der Universität, Deutschhausstr. 17 1/2, D-3550, Marburg, Germany

    M. Doss, R. V. Tiepermann & J. Schneider

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  1. M. Doss
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  2. R. V. Tiepermann
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  3. J. Schneider
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Additional information

This work is dedicated to Professor Dr. Rudolf Gross on the occasion of his 65th birthday

This study was supported by the German Research Association (Deutsche Forschungsgemeinschaft, Grant Do 134/10), Bonn-Bad Godesberg

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Doss, M., Tiepermann, R.V. & Schneider, J. Porphobilinogen-synthase (δ-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. Klin Wochenschr 61, 699–702 (1983). https://doi.org/10.1007/BF01487615

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  • DOI: https://doi.org/10.1007/BF01487615

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