Zusammenfassung
Organoazidurien sind eine ätiologisch heterogene Gruppe angeborener Stoffwechselerkrankungen: Sie unterscheiden sich weder hinsichtlich ihrer Ätiologie noch ihrer Pathogenese grundsätzlich von den Aminoazidopathien. Klinisch imponieren vor allem akute metabolische Entgleisungen, Entwicklungsstörungen, neurologische oder multiple Organmanifestationen. Durch verschiedene Enzym- und Koenzymdefekte ist zumeist der Abbau von Aminosäuren oder der für die enzymatische Funktion erforderlichen Kofaktoren, z. B. Cobalamin oder Biotin, gestört. Die vor dem Block innerhalb des betroffenen Abbauwegs befindlichen und für jede Krankheit charakteristischen organischen Säuren und/oder deren Folgeprodukte stauen sich an und stören die Körperhomöostase. Häufig akkumulieren CoA-Derivate, die ihrerseits häufig zentrale mitochondriale Stoffwechselfunktionen hemmen und in charakteristische Acylcarnitine umgewandelt werden. Letztere sind mittels Tandem-Massenspektrometrie (MS/MS) detektierbar und bilden die Grundlage des erweiterten Neugeborenenscreenings. In Deutschland gehören drei Organoazidurien – Isovalerianazidurie, Glutarazidurie Typ I und der Biotinidasemangel – zu den Zielkrankheiten des Neugeborenenscreenings.
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Kölker, S., Hoffmann, G.F. (2019). Organoazidurien. 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_72-2
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DOI: https://doi.org/10.1007/978-3-642-54671-6_72-2
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Organoazidurien- Published:
- 15 January 2019
DOI: https://doi.org/10.1007/978-3-642-54671-6_72-2
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Organoacidurien- Published:
- 16 June 2015
DOI: https://doi.org/10.1007/978-3-642-54671-6_72-1