Zusammenfassung
Stoffwechselerkrankungen sind nur äußerst selten Ursache von Epilepsien. Dennoch ist die Kenntnis dieser Krankheitsbilder essenziell, da für einige Formen gut wirksame Therapieoptionen in Form von Substratreduktion (z. B. Phenylketonurie), Supplementierung fehlender Stoffwechselprodukte (z. B. Vitamin-B6-abhängige Anfälle) oder Bereitstellung alternativer Energieträger (z. B. Glukosetransporterdefekt) verfügbar sind. Zerebrale Anfälle können Hauptsymptom eines Stoffwechseldefektes (z. B. Vitamin-B6-abhängige Anfälle) sein oder lediglich in Form von Gelegenheitsanfällen bei akuten Stoffwechselentgleisungen (z. B. Hyperammonämie bei Harnstoffzyklusdefekt) auftreten (Hyland 2005).
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Neubauer, B.A., Hahn, A. (2012). Epilepsien bei Stoffwechselerkrankungen. In: Dooses Epilepsien im Kindes- und Jugendalter. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-29438-9_13
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