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Störungen des Stoffwechsels von Aminosäuren und organischen Säuren

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Pädiatrie

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Definition. Der Mensch nimmt mit einer normalen eiweißhaltigen Ernährung wesentlich größere Mengen der essenziellen 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 Kofaktor Tetrahydrobiopterin (BH4). Sowohl ein Aktivitätsverlust oder ein Fehlen des Apoenzyms PAH als auch ein Mangel des Kofaktors 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 essenziellen Aminosäure. Erhöhte Phenylalaninkonzentrationen führen im Säuglings- und Kleinkindalter während der Phase der Entwicklung zu irreversiblen Schädigungen des Gehirns, nach Abschluss der Hirnentwicklung zu reversiblen Funktionseinschränkungen.

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Authors and Affiliations

  1. Univ.-Kinderklinik, Albert-Schweitzer-Str. 33, 48149, Münster, Germany

    Prof. Dr. E. Harms

  2. Univ.-Kinderklinik, Moorenstr. 5, 40225, Düsseldorf, Germany

    Prof. Dr. U. Wendel

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  1. Prof. Dr. E. Harms
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  2. Prof. Dr. U. Wendel
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Editors and Affiliations

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

    Michael J. Lentze

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

    Franz J. Schulte

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

    Jürgen Schaub

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

    Jürgen Spranger

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Harms, E., Wendel, U. (2007). 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/10.1007/978-3-540-76460-1_39

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  • DOI: https://doi.org/10.1007/978-3-540-76460-1_39

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