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Emergency Treatments

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Book cover Inborn Metabolic Diseases

Abstract

The emergency treatment of children suspected of having an inborn error of metabolism implies three simultaneous actions: collecting all samples necessary for the diagnosis, deciding on adequate treatment, and organizing clinical and biochemical supervision. As already stated in the first chapter (Saudubray et al.), management depends on the physiopathology involved. This chapter focuses on the emergency treatment of those disorders which lead to an acute intoxication secondary to accumulation of toxic compounds proximal to the metabolic block. Mainly, they comprise branched-chain organic acidurias (BCOA), urea cycle defects (UCD), and some β-oxidation defects. Age of onset (neonatal versus late-onset) and intercurrent decompensations are other aspects which influence management.

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Authors
  1. H. Ogier de Baulny
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  2. J.-M. Saudubray
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Editor information

Editors and Affiliations

  1. University Children’s Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M.D.

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

    Jean-Marie Saudubray M.D.

  3. International Institute of Cellular and Molecular Pathology, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe M.D.

  4. Sendai, Japan

    K. Tada

  5. Portland, Oregon, USA

    N. R. M. Buist

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© 1995 Springer-Verlag Berlin Heidelberg

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de Baulny, H.O., Saudubray, JM. (1995). Emergency Treatments. In: Fernandes, J., Saudubray, JM., Van den Berghe, G., Tada, K., Buist, N.R.M. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03147-6_3

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  • DOI: https://doi.org/10.1007/978-3-662-03147-6_3

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-03149-0

  • Online ISBN: 978-3-662-03147-6

  • eBook Packages: Springer Book Archive

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