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Infusionstherapie und Ernährung bei angeborenen Stoffwechselstörungen

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Ernährungsmedizin Pädiatrie

Zusammenfassung

Die Zahl der bekannten angeborenen Stoffwechselstörungen ist in den letzten Jahren auf mehr als 2.000 angestiegen. Bisher behandelbar sind davon aber nur etwa 200. Die hier zur Beschreibung getroffene Auswahl orientiert sich im Wesentlichen an den für das Neugeborenenscreening empfohlenen angeborenen Stoffwechselstörungen (Interdiziplinäre Screeningkommission der Deutschen Gesellschaft für Kinderheilkunde und Jugendmedizin 2002). Statt der sehr seltenen und unterschiedlich zu therapierenden 3 Carnitin-Zyklus-Defekte, des LCHAD- und des VLCAD-Mangels („Differenzialdiagnostik“; ▶ Abschn. 21.5) wird der Ornithintranscarbamylasemangel (OTC-Mangel) exemplarisch für die Störungen in der Harnstoffsynthese und solche Erkrankungen abgehandelt, die mit schwerer Hyperammonämie einhergehen können.

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  1. Klinik für Kinder- und Jugendmedizin, Charité Berlin, Campus Virchow, Augustenburger Platz 1, 13353, Berlin, Deutschland

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    Frank Jochum

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Mönch, E. (2013). Infusionstherapie und Ernährung bei angeborenen Stoffwechselstörungen. In: Jochum, F. (eds) Ernährungsmedizin Pädiatrie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-29817-2_21

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