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Sphingolipidosen

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Monogen bedingte Erbkrankheiten 1

Part of the book series: Handbuch der Molekularen Medizin ((HDBMOLEK,volume 6))

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Zusammenfassung

Der Begriff der Sphingolipidosen umfaßt eine Reihe erblicher Störungen des Sphingolipidstoffwechsels. Aufgrund von Mutationen in Strukturgenen, die für Enzyme und weitere Proteine des Sphingolipidabbaus kodieren, kommt es zur lysosomalen Speicherung nicht mehr abbaubarer Sphingolipide in einem oder mehreren Organen. Symptomatik und Verlaufsformen dieser Speicherkrankheiten können innerhalb weiter Grenzen variieren. Selbst bei Mutationen innerhalb ein und derselben Sphingolipidhydrolase sind verschiedene Verlaufsformen und Symptomatiken möglich. Einerseits können infantile Erkrankungen zu neurologischen Ausfallerscheinungen und frühem Tod führen, andererseits sind auch adulte Varianten möglich (Rapola, 1994), die mit einem langsamen Fortschreiten der Krankheit und einer nahezu normalen Lebenserwartung ohne neurologische Beteiligung einhergehen. Bei sog. Pseudodefizienzen ist die Restenzymaktivität so groß, daß keine Krankheitssymptome auftreten. Die Kenntnis der primären Defekte auf genomischer Ebene ist eine Voraussetzung zum Verständnis dieser Erkrankungen, sie ist aber nicht ausreichend, um deren Verlaufsformen und Symptomatik zu verstehen.

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Authors
  1. Thomas Kolter
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  2. Konrad Sandhoff
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  1. Max-Delbrück-Centrum für Molekulare Medizin (MDC), Robert-Rössle-Str. 10, Berlin-Buch, D-13122, Germany

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Kolter, T., Sandhoff, K. (2000). Sphingolipidosen. In: Ganten, D., Ruckpaul, K. (eds) Monogen bedingte Erbkrankheiten 1. Handbuch der Molekularen Medizin, vol 6. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-57043-8_8

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  • DOI: https://doi.org/10.1007/978-3-642-57043-8_8

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