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Störungen des Energiestoffwechsels

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Pädiatrie

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Zusammenfassung

Die Störungen der mitochondrialen Fettsäurenoxidation und des Ketonstoffwechsels wurden in den letzten 25 Jahren anhand der zugrunde liegenden Enzymdefekte identifiziert. Es handelt sich in allen Fällen um autosomal-rezessiv vererbte Erkrankungen. Mittlerweile sind mehr als 20 Enzym- und Transportdefekte bekannt.

Die mitochondriale Fettsäurenoxidation umfasst:

  • den Transport der Fettsäuren (FS) in die Mitochondrien (Carnitintransportsystem),

  • die mitochondriale β-Oxidation,

  • den Elektronentransfer zur Atmungskette.

Bei den Störungen des Ketonstoffwechsels werden Störungen der Ketogenese und Störungen der Ketolyse unterschieden.

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Authors and Affiliations

  1. Klinik für Kinder- und Jugendmedizin, Klinikum am Steinenberg, Steinenbergstr. 31, 72764, Reutlingen, Deutschland

    Peter Freisinger Prof. Dr. med.

  2. Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland

    Georg Friedrich Hoffmann Prof. Dr. med.

  3. Universitätsklinik und Poliklinik für Kinder- und Jugendmedizin, Paracelsus Medizinische Privatuniversität, Müllner Hauptstr. 46, 5020, Salzburg, Österreich

    Wolfgang Sperl Prof. Dr. med.

  4. Allgemeine Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106, Freiburg, Deutschland

    Ute Spiekerkötter Prof. Dr. med.

Authors
  1. Ute Spiekerkötter Prof. Dr. med.
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  2. Wolfgang Sperl Prof. Dr. med.
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  3. Peter Freisinger Prof. Dr. med.
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  4. Georg Friedrich Hoffmann Prof. Dr. med.
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Editor information

Editors and Affiliations

  1. Zentrum für Kinder und Jugendmedizin, Universitätsklinikum Heidelberg, Heidelberg, Germany

    Georg F. Hoffmann

  2. Forschungsinstitut für Kinderernährung, Dortmund, Germany

    Michael J. Lentze

  3. Zentrum für Kinder- und Jugendmedizin, Universitätsmedizin Mainz, Mainz, Germany

    Jürgen Spranger

  4. Zentrum für Kinder- und Jugendmedizin, Universitätsmedizin Mainz, Mainz, Germany

    Fred Zepp

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Spiekerkötter, U., Sperl, W., Freisinger, P., Hoffmann, G.F. (2014). Störungen des Energiestoffwechsels. In: Hoffmann, G., Lentze, M., Spranger, J., Zepp, F. (eds) Pädiatrie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-41866-2_56

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  • DOI: https://doi.org/10.1007/978-3-642-41866-2_56

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