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Störungen des Stoffwechsels von Aminosäuren und organischen Säuren

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Pädiatrie

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Zusammenfassung

Der Mensch nimmt mit einer normalen eiweißhaltigen Ernährung wesentlich größere Mengen der essentiellen Aminosäure Phenylalanin zu sich, als er für seine Eiweißsynthese benötigt. Überschüssiges Phenylalanin wird daher unter normalen Bedingungen ganz überwiegend durch die Phenylalaninhydroxylase (PAH) zu Tyrosin umgewandelt. Dieses Enzym benötigt als aktiven Cofaktor Tetrahydrobiopterin (BH4). Sowohl ein Aktivitätsverlust oder Fehlen des Apoenzyms PAH als auch ein Mangel des Cofaktors BH4 vermindern die Aktivität des Enzymsystems. Dabei kommt es bei normaler Eiweißzufuhr zu erhöhten Phenylalaninspiegeln in Blut und Organen. Tyrosin wird durch den Defekt zu einer essentiellen Aminosäure. Erhöhte Phenylalaninkonzentrationen führen im Säuglings- und Kleinkindesalter während der Phase der Entwicklung zu irreversiblen Schädigungen des Gehirns, nach Abschluß der Hirnentwicklung zu reversiblen Funktionseinschränkungen.

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Authors
  1. E. Harms
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  2. U. Wendel
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Editor information

Editors and Affiliations

  1. Universitäts-Kinderklinik, Adenauerallee 119, 53113, Bonn, Deutschland

    Michael J. Lentze

  2. Universitäts-Kinderklinik, Martinistr. 52, 20246, Hamburg, Deutschland

    Franz J. Schulte

  3. Universitäts-Kinderklinik, Schwanenweg 20, 24105, Kiel, Deutschland

    Jürgen Schaub

  4. Universitäts-Kinderklinik, Langenbeckstr. 1, 55101, Mainz, Deutschland

    Jürgen Spranger

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Harms, E., Wendel, U. (2003). Störungen des Stoffwechsels von Aminosäuren und organischen Säuren. In: Lentze, M.J., Schulte, F.J., Schaub, J., Spranger, J. (eds) Pädiatrie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-09176-0_39

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  • DOI: https://doi.org/10.1007/978-3-662-09176-0_39

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-09177-7

  • Online ISBN: 978-3-662-09176-0

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