Zusammenfassung
Gemeinsames biochemisches Merkmal aller angeborenen Aminoazidopathien, die durch angeborene Defekte spezifischer Enzyme und Transporter verursacht werden, ist die Akkumulation charakteristischer Aminosäuren und z. T. weiterer diagnostisch relevanter Metaboliten. Die Schwere der klinischen Präsentation wird durch den Schweregrad des Enzymdefektes, die Kompartimentierung und (organ-)spezifische Toxizität akkumulierender Metabolite sowie Ausmaß und Dauer der Proteinzufuhr bzw. des endogenen Proteinabbaus bestimmt. Ein vermehrter Proteinabbau wird durch unzureichende Energie- oder Proteinzufuhr im Rahmen eines Gewebskatabolismus, z. B. nach Operationen und bei interkurrenten Infekten, Nahrungsverweigerung, Erbrechen, aber auch durch eine hohe, über dem Grundbedarf liegende Eiweißzufuhr aktiviert. Eckpfeiler der Behandlung von Aminoazidopathien sind spezielle, an die individuelle Verträglichkeit einzelner Aminosäuren angepasste Diäten und bei schweren Krankheitszuständen eine extrakorporale Entgiftung.
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Kölker, S., Hoffmann, G.F. (2019). Aminoazidopathien. In: Hoffmann, G., Lentze, M., Spranger, J., Zepp, F., Berner, R. (eds) Pädiatrie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54671-6_71-2
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DOI: https://doi.org/10.1007/978-3-642-54671-6_71-2
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Aminoazidopathien- Published:
- 11 January 2019
DOI: https://doi.org/10.1007/978-3-642-54671-6_71-2
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Aminoacidopathien- Published:
- 20 April 2015
DOI: https://doi.org/10.1007/978-3-642-54671-6_71-1