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Clinical Approach to Inborn Errors of Metabolism in Paediatrics

  • Chapter
Inborn Metabolic Diseases

Abstract

Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The recent application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal diagnosis has enabled presymptomatic diagnosis for some IEM. However, for most, neonatal screening tests are either too slow, too expensive or unreliable and, as a consequence, a simple method of clinical screening is mandatory before the initiation of sophisticated biochemical investigations.

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Authors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

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  1. Jean-Marie Saudubray
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Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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Saudubray, JM. (2012). Clinical Approach to Inborn Errors of Metabolism in Paediatrics. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_1

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_1

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  • Online ISBN: 978-3-642-15720-2

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