Zusammenfassung
Hierunter fallen die Krankheitsbilder der oxidativ-metabolischen Zytopathien, denen Störungen der Pyruvatoxidation, des Zitratzyklus oder des in der inneren Mitochondrienmembran lokalisierten Systems der oxidativen Phosphorylierung (OXPHOS) zugrunde liegen. Im allgemeinen ist bei diesen Krankheiten intermittierend oder chronisch der Laktatspiegel im Blut und/oder Liquor cerebrospinalis infolge gestörter Substratoxidation erhöht.
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Smeitink, J., Wendel, U. (2003). Mitochondriopathien. In: Lentze, M.J., Schulte, F.J., Schaub, J., Spranger, J. (eds) Pädiatrie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-09176-0_43
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