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Pädiatrie pp 1–20Cite as

Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels

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Part of the book series: Springer Reference Medizin ((SRM))

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.

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Authors and Affiliations

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

    U. Spiekerkötter

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  1. U. Spiekerkötter
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Correspondence to U. Spiekerkötter .

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Editors and Affiliations

  1. Universität Heidelberg, Zentrum für Kinder- und Jugendmedizin, Heidelberg, Germany

    Georg F. Hoffmann

  2. Zentrum für Kinderheilkunde, Bonn, Germany

    Michael J. Lentze

  3. Sinzheim, Germany

    Jürgen Spranger

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

    Fred Zepp

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Spiekerkötter, U. (2015). Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels. In: Hoffmann, G., Lentze, M., Spranger, J., Zepp, F. (eds) Pädiatrie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54671-6_75-1

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  • DOI: https://doi.org/10.1007/978-3-642-54671-6_75-1

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  • Online ISBN: 978-3-642-54671-6

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  1. Latest

    Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels
    Published:
    14 February 2019

    DOI: https://doi.org/10.1007/978-3-642-54671-6_75-2

  2. Original

    Genetische Defekte der Fettsäurenoxidation und des Ketonstoffwechsels
    Published:
    24 April 2015

    DOI: https://doi.org/10.1007/978-3-642-54671-6_75-1

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