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Therapie von Patienten mit klassischer Galaktosämie

Empfehlung der Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS)

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Screening auf angeborene endokrine und metabole Störungen

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Zusammenfassung

Die klassische Galaktosämie wird autosomal rezessiv vererbt. Die Häufigkeit beträgt 1: 40.000 bis 1:60.000.Ursache ist die unzureichende Bildung des Enzyms Galaktose-1-Phosphat-Uridyltransferase (Gal-1-PUT; GALT). Der Umbau der freien Galaktose in Glukose ist dadurch gestört. Es entstehen Stoffwechselabbauprodukte, welche an verschiedenen Organsystemen Schäden verursachen, die nur zum Teil durch die derzeit empfohlene galaktosearme Diät zu beeinflussen sind.

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Literatur

  • Berry GT et al. (1995) Endogenous synthesis of galactose in normal men and patientes with hereditary galactosaemia. Lancet 346: 1073–1074

    Article  PubMed  CAS  Google Scholar 

  • Gitzelmann R, Auricchio S (1965) The handling of soya alpha-galactosides by a normal and a galactosaemic child. Pediatr 36: 231–235

    CAS  Google Scholar 

  • Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13: 802–818

    Article  PubMed  CAS  Google Scholar 

  • Waisbren SE et al. (1983) Speech and language deficits in early-treated children with galactosaemia. J Pediatr 102: 75–77

    Article  PubMed  CAS  Google Scholar 

  • Segal S et al. (1995) Disorders of galactose metabolism. In: Striver CR, Beaudet AL, Sly WS, Valle D (eds.) The metabolic and molecular bases on inherited disease. New York: MacGraw-Hill, pp. 967–1000

    Google Scholar 

  • Schweitzer S, Shin Y, Jakobs C, Brodehl J (1993) Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 152: 36–43

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. AG Pädiatrische Diätetik, Deutschland

    S. Schweitzer, H. Przyrembel, K. Ullrich & U. Wendel

  2. Elterninitiative Galaktosämie, Deutschland

    A. van Teeffelen-Heithoff

Authors
  1. S. Schweitzer
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  2. H. Przyrembel
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  3. K. Ullrich
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  4. U. Wendel
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  5. A. van Teeffelen-Heithoff
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  6. F. Fremerey
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  7. T. Seebeck
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© 2001 Springer-Verlag Wien

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Schweitzer, S. et al. (2001). Therapie von Patienten mit klassischer Galaktosämie. In: Screening auf angeborene endokrine und metabole Störungen. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6252-1_26

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  • DOI: https://doi.org/10.1007/978-3-7091-6252-1_26

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-7260-5

  • Online ISBN: 978-3-7091-6252-1

  • eBook Packages: Springer Book Archive

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