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Diagnostic Procedures

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Inborn Metabolic Diseases

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Zusammenfassung

Unlike most other genetic disorders, IEMs are usually diagnosed from biochemical analyses prior to molecular testing. Basal metabolic investigations remain the gold standard for many clinical presentations (hypoglycaemia, liver disease, epilepsy, neurodevelopmental delay, movement disorders, neuro-sensorial deficit, peripheral neuropathy, etc.). If an IEM is suspected, then blood, urine and cerebrospinal fluid should be collected for the appropriate investigations (7 Chapter 1, 7 Fig. 1.1). 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. 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

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Author information

Authors and Affiliations

  1. Metabolic Unit, Children’s Hospital, 330 avenue de Grande Bretagne, 31059, Toulouse Cedex 9, France

    Guy Touati

  2. Neurometabolic unit, University Pierre and Marie Curie, Department of Genetics, La Pitié-Salpêtrière Hospital, 47 Bd de l’Hôpital, 75013, Paris, France

    Fanny Mochel

  3. Laboratoire de Biochimie B, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75743, Paris Cedex 13, 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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Corresponding authors

Correspondence to Guy Touati , Fanny Mochel or Daniel Rabier .

Editor information

Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Touati, G., Mochel, F., Rabier, D. (2016). Diagnostic Procedures. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_3

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_3

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-49769-2

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