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Diagnostic Procedures: Functional Tests and Post-mortem Protocol

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Inborn Metabolic Diseases

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Abstract

Functional tests are dynamic investigations based on the measurement of intermediary metabolites in body fluids. They are most useful in disorders that give rise to toxicity or energy deficiency. The best functional test is elicited by nature itself during episodes that cause metabolic stress, including acute infection, inadvertent fasting, or consumption of a nutrient that induces a metabolic intolerance. If an inherited metabolic disease is suspected then blood, urine and cerebrospinal fluid should be collected for the appropriate investigations (► Chapter 1, Table 1.3). If no material is available or if the results are ambiguous, a provocative test that challenges a metabolic pathway may provide clues to a diagnosis and indicate which specific enzymatic or genetic analysis should be undertaken.

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Author information

Authors and Affiliations

  1. Department of Pediatrics Metabolic Unit, Hôpital Necker Enfants Malades 149 Rue de Sèvres, Paris Cedex 15, 75743, Paris, France

    Guy Touati

  2. Department of Genetics Neurometabolic Unit, Hôpitalier Pitié Salpêtrière 47-83 Boulevard de L’Hôpital, Paris Cedex 13, 75651, Paris, France

    Fanny Mochel

  3. Laboratoire de Biochimie B, Hôpital Necker Enfants Malades 149 Rue de Sèvres, Paris Cedex 15, 75743, Paris, France

    Daniel Rabier

Authors
  1. Guy Touati
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  2. Fanny Mochel
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  3. Daniel Rabier
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Editor information

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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© 2012 Springer-Verlag Berlin Heidelberg

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Touati, G., Mochel, F., Rabier, D. (2012). Diagnostic Procedures: Functional Tests and Post-mortem Protocol. 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_4

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_4

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

  • eBook Packages: MedicineMedicine (R0)

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