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Zusammenfassung

Kaum ein anderes Enzym ist so gründlich untersucht worden wie die Glukose-6Phosphat-Dehydrogenase (G-6-PD). Dies beruht einerseits auf der großen biologischen Verbreitung und der biochemischen Schlüsselfunktion des Enzyms. Andererseits wurden die genetische Variabilität und die klinische Bedeutung des Enzyms intensiv erforscht. Da die Prävalenz des Enzymmangels auch in Deutschland relativ hoch ist (0,14-0,37%, in einigen Ländern des Mittelmeergebietes, Afrikas und Asiens: 3,0-30,0% und darüber) und eine Vielzahl hämolyseinduzierender Medikamente häufig zurAnwendung kommen, ist eine hohe Aktualität in der medizinischen Versorgung gegeben. Die Bedeutung des G-6-PD-Mangels liegt somit in der sehr hohen Häufigkeit, kombiniert mit vielen z.T. lebensbedrohlichen Noxen. Diese Noxen sind überwiegend aus der modernen Medizin in Ländern mit Hochtechnologic entstanden. Eine Risikominimierung für die Patienten ist Gegenstand des allgemeinen Trends in unserer Gesellschaft hin zu einem hohen medizinischen Standard.

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Literatur

  • Alhanaty E, Snyder M, Sheetz MP (1984) Glucose-6-phosphate-dehydrogenase-deficient erythrocytes have an impaired shape recovery mechanism. Blood 63: 1198–1202

    PubMed  CAS  Google Scholar 

  • Ardati KO, Bajakian KM, Tabbara KS (1997) Effect of glucose-6-phosphate dehydrogenase deficiency on neutrophil function. Acta Haematolo 97 (4): 211–215

    Article  CAS  Google Scholar 

  • Arnold H (1982) Arzneimittelinduzierte hämolytische Anämien auf dem Boden genetischer Anomalien. Diagnostik & Intensivtherapie 3: 41–46

    Google Scholar 

  • Battistuzzi G, Morellini M, Meloni T, Gandini E, Luzzatto L (1982) Genetic factors in favism. In: Weatherall DJ, Fiorelli G, Gorinni S (eds.) Advances in red blood cell biology. New York: Raven Press, pp. 339–346

    Google Scholar 

  • Chau TN, Lai ST, Lai JY, Yuen H (1997) Haemolysis complicating acute viral hepatitis in patients with normal or deficient glucose-6-phosphate dehydrogenase activity. Scand J Infect Dis 29 (6): 651–653

    Article  Google Scholar 

  • Chevion M, Novak T, Glaser G (1982) Favism inducing agents: biochemical and mechanistic conciderations. In: Weatherall DJ, Fiorelli G, Gorini S (eds.) Advances in red blood cell biology. New York: Raven Press, pp. 381–390

    Google Scholar 

  • Dem RJ, Beutler E, Alving AS (1955) The hemolytic effect of primaquine. V. Primaquine sensitivity as a manifestation of a multiple drug sensitivity. J Lab & Clin Med 45: 30–39

    Google Scholar 

  • El Hazmi MAF, Warsy AS (1984) Aspects of sickle cell gene in Saudi Arabia—interaction with glucose-6-phosphate dehydrogenase deficiency. Hum Genet 68: 320–323

    Article  PubMed  Google Scholar 

  • Fiorelli G, Finazzi G, Manoussakis C, Palomba V, Fenu MP (1982) G6PD deficiency in Sardinia: genetic heterogeneity and clinical implications. In: Wheatherall DJ, Fiorelli G, Gorini S (eds.) Advances in red blood cell biology. New York: Raven Press, pp. 399–408

    Google Scholar 

  • Gaetani GF, Rolfo M, Arena S, Mangerini R, Meloni GF, Ferraris AM (1996) Active involment of catalasc during hemolytic crisis of favism. Blood 88 (3): 1084–1088

    PubMed  CAS  Google Scholar 

  • Gahr M, Bornhalm D, Schröter W (1977) Biochemische Eigenschaften einer neuen Variante des Glucose-6-Phosphat-Dehydrogenase (G-6-PD)-Mangels mit Favismus: G-6-PD Bielefeld. Min Wschr 55: 379–384

    Article  CAS  Google Scholar 

  • Jain SK (1998) Glutathione and glucose-6-phosphate dehydrogenase deficiency can increase protein glycosylation. Free Radio Biol Med (1): 197–201

    Google Scholar 

  • Johannsen LP, Witt I, Künzer W (1968) Favismus bei einer deutschen Familie. Dt Med Wschr (93): 2463–2470

    Google Scholar 

  • Kaplan M, Beutler E, Vreman HJ, Hammermann C, Levy-Lahad E, Renbaum P, Stevenson DK (1999) Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes. Pediatrics 104: 68–74

    Article  PubMed  CAS  Google Scholar 

  • Kaplan M, Waisman D, Mazor D, Hammermann C, Bader D, Abrahamov A, Meyerstein N (1998) Effect of vitamin Kl on glucose-6-phosphate dehydrogenase deficient neonatal erythrocytes in vitro. Arch Dis Child Fetal Neonatal Ed 79: F218–220

    Article  PubMed  CAS  Google Scholar 

  • Khoo K-K (1981) The treatment of malaria in glucose-6-phosphate dehydrogenase deficient patients in Sabah. Ann Trop Med Parasitol 75: 591–595

    PubMed  CAS  Google Scholar 

  • Kosower NS, Zipser Y, Eakin Z (1982) Membrane thiol-disulfide status in glucose-6-phosphate dehydrogenase deficient red cells. Relationship to cellular glutathione. Biochim Biophys Acta 691: 345–352

    Article  PubMed  CAS  Google Scholar 

  • Lewis RA, Kay RW, Hathorn M (1966) Sickle cell disease and glucose-6-phosphate dehydrogenase. Acta Haematol 36: 399–411

    Article  PubMed  CAS  Google Scholar 

  • Luzzatto L, Mehta A (1995) Glucose-6-phosphate dehydrogenase deficiency. In: Striver CR et al. (eds.) The metabolic basis of inherited disease II. New York: McGraw-Hill

    Google Scholar 

  • Luzzatto L, Usanga EA, Reddy S (1969) Glucose-6-phosphate dehydrogenase deficient red cells: resistance to infection by malaria parasites. Science 164: 839–842

    Article  PubMed  CAS  Google Scholar 

  • Motulsky AG (1960) Metabolic polymorphisms and the role of infectious diseases in human evolution. Hum Biol 32: 28–62

    PubMed  CAS  Google Scholar 

  • Ponnampalam JT (1981) Haemoglobinuria after a single dose treatment with dapsone and pyrimethamine for falciparum malaria in a patient with glucose-6-phosphate dehydrogenase deficiency. Trop Geogr Med 33: 401–402

    PubMed  CAS  Google Scholar 

  • Ragab AH, El-Alfi OS, Abboud MA (1966) Incidence of glucose-6-phosphate dehydrogenase deficiency in Egypt. Ani J Huni Genet 18: 21–25

    CAS  Google Scholar 

  • Report of a WHO Scientific Group (1967) Standardization of procedures for the study of glucose6-phosphate dehydrogenase. WHO Techn Rep Ser 366

    Google Scholar 

  • Rubaltelli FF (1998) Current drug treatment options in neonatal hyperbilirubinaemia and the prevention of kernicterus. Drugs 1: 23–30

    Article  Google Scholar 

  • Schröter W (1980) Screening for glucose-6-phosphate dehydrogenase deficiency and other erythrocyte enzyme defects. In: Bickel H, Guthrie R, Hammersen G (eds.) Neonatal screening for inborn errors of metabolism. Berlin Heidelberg New York: Springer, pp. 149–154

    Chapter  Google Scholar 

  • Solem E (1998) Glucose-6-Phosphat-Dehydrogenase-Mangel. Päd (4): 224–231

    Google Scholar 

  • Solem E (1984) Glucose-6-phosphate dehydrogenase deficiency: an easy and sensitive quantitative assay for the detection of female heterozygotes in red blood cells. Clin China Acta 142: 153–160

    Article  CAS  Google Scholar 

  • Solem E, Pirzer C, Siege M, Kollmann F, Romero-Saravia O, Bartsch-Trefs O, Kornhuber B (1985b) Mass screening for glucose-6-phosphate dehydrogenase deficiency: improved fuorescent spot test. Clin Chim Acta 152: 135–142

    CAS  Google Scholar 

  • Valaes T, Drummond GS, Kappas A (1998) Control of hyperbilirubinaemia in glucose-6-phosphate dehydrogenase-deficient newborns using an inhibitor of bilirubin production, Sn-mesoprophyrin. Pediatrics 105: El

    Google Scholar 

  • Walker DH, Kirkman HN (1980) Rocky Mountain spotted fever and deficiency in glucose-6phosphate dehydrogenase. J Infect Dis 142: 771

    Article  PubMed  CAS  Google Scholar 

Download references

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© 2001 Springer-Verlag Wien

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Solem, E. (2001). Glukose-6-Phosphat-Dehydrogenase-Mangel. In: Screening auf angeborene endokrine und metabole Störungen. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6252-1_36

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  • DOI: https://doi.org/10.1007/978-3-7091-6252-1_36

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-7260-5

  • Online ISBN: 978-3-7091-6252-1

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