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Angeborene Störungen des Kohlenhydratstoffwechsels und sonstige angeborene Stoffwechselstörungen

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Therapie der Krankheiten im Kindes- und Jugendalter

Zusammenfassung

Hereditäre Defekte des Galaktosestoffwechsels führen zu erhöhten Galaktosekonzentrationen in Geweben und Körperflüssigkeiten. Die klinischen Symptome dieser Erkrankungen reichen von asymptomatischen Verlaufsformen bis zu lebensbedrohlichen Krisen in der Neugeborenenperiode und schweren Langzeitkomplikationen. Drei angeborene Enzymdefekte des Galaktosestoffwechsels, die autosomal-rezessiv vererbt werden, sind bekannt.

Der Galaktokinasedefekt führt zu Katarakten, die in den ersten Lebenswochen auftreten und in der Regel beidseitig sind. Ein Pseudotumor cerebri wird inzwischen als häufige klinische Manifestationsform des Galaktokinasedefektes anerkannt.

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Notes

  1. 1.

    Umrechnung in Stoffmengenkonzentration: mg/dl × 0,047393 = mmol/l.

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Authors and Affiliations

  1. Forschungszentrum im Dr. von Haunerschen Kinderspital, Klinikum der Universität München, Lindwurmstr. 2a, 80337, München, Deutschland

    Ania Carolina Muntau Prof. Dr. med.

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  1. Ania Carolina Muntau Prof. Dr. med.
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Editors and Affiliations

  1. Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital, Klinikum der Universität München, Lindwurmstr. 4, 80337, München, Deutschland

    Dietrich Reinhardt Prof. Dr. med. Dr. h. c.  & Thomas Nicolai Prof. Dr. med.  & 

  2. Zentrum für Kinder- und Jugendmedizin, Abt. Allgem. Pädiatrie und Neonatologie, Universitätsklinikum Gießen und Marburg, Standort Gießen, Feulgenstr. 12, 35392, Gießen, Deutschland

    Klaus-Peter Zimmer Prof. Dr. med.

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Muntau, A.C. (2014). Angeborene Störungen des Kohlenhydratstoffwechsels und sonstige angeborene Stoffwechselstörungen. In: Reinhardt, D., Nicolai, T., Zimmer, KP. (eds) Therapie der Krankheiten im Kindes- und Jugendalter. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-41814-3_15

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  • DOI: https://doi.org/10.1007/978-3-642-41814-3_15

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-41813-6

  • Online ISBN: 978-3-642-41814-3

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