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Treatment: Present Status and New Trends

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Inborn Metabolic Diseases

Abstract

Improvements in the understanding of the biochemical and molecular basis of inborn errors have led to significant improvements in our ability to treat many of these disorders. Such improvements, coupled with an ability to make more rapid diagnoses and advances in general medical care, particularly intensive care, are resulting in better long-term prognosis for many patients. However, the rarity of individual disorders has often made it difficult or impossible to obtain sufficient data for evidence-based assessment of treatments. This should be kept in mind when considering the efficacy of particular therapies. Anecdotal reports of improvements should be reviewed critically, but it is equally important to remain open to new advances. This chapter discusses recent progress in the development of treatments. We have also included a list of medications (with recommended dosages) that may be used in the treatment of inborn errors (Table 5.1). Readers should refer to the relevant chapters for detailed information about the management of specific disorders and to Chap. 4, “Psychosocial Care of the Child and Family”, for discussion of the psychological consequences of treatment.

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Authors
  1. J. H. Walter
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  2. J. E. Wraith
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Editor information

Editors and Affiliations

  1. Veldweg 87, 8051 NP, Hattem, The Netherlands

    John Fernandes (Professor Emeritus of Pediatrics) (Professor Emeritus of Pediatrics)

  2. Hospital Necker-Enfants Malades, 149 Rue de Sevres, 75743, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe (Christian de Duve) (Christian de Duve)

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© 2000 Springer-Verlag Berlin Heidelberg

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Walter, J.H., Wraith, J.E. (2000). Treatment: Present Status and New Trends. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_5

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_5

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-04287-8

  • Online ISBN: 978-3-662-04285-4

  • eBook Packages: Springer Book Archive

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