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Neurological Disease

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Inherited Metabolic Diseases

Abstract

The correct diagnosis of inherited metabolic diseases that affect primarily the nervous system is a major challenge because the same neurological symptoms and often even disease course may be caused by non-metabolic disorders. Neurometabolic diseases often start with common and nonspecific signs, such as isolated developmental delay/mental retardation, seizures, dystonia, or ataxia. They are especially to be suspected when the course of the disease is progressive or when additional neurological systems or other organs become involved. An important clue is the coexistence of different neurological features that cannot be explained by a “simple” neuroanatomic approach.

Acute or recurrent attacks of neurological manifestations such as coma, ataxia, or abnormal behavior are major presenting features especially in the late-onset inborn errors of metabolism (see also Chap. 18). The initial diagnostic approach to these disorders is based on a few metabolic screening tests. It is important that the biologic fluids are collected at the time of the acute attack. And always consider treatable disorders first when choosing your plan of investigations.

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Authors and Affiliations

  1. Servicio de Neurologia, Hospital Sant Joan de Deu, PasseigSant Joan de Deu 2, 08950, Esplugues, Barcelona, Spain

    Angels García-Cazorla MD, PhD

  2. Department of Child Neurology, VU Medisch Centrum, Amsterdam, 1007 MB, The Netherlands

    Nicole I. Wolf MD

  3. Neurometabolic Unit, Department of Genetics, La Pitié-Salpêtrière University Hospital, 47, Bd de l’Hôpital, Paris, 75013, France

    Fanny Mochel MD

  4. University Children’s Hospital, Ruprecht-Karls-University, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Georg F. Hoffmann MD

Authors
  1. Angels García-Cazorla MD, PhD
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  2. Nicole I. Wolf MD
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  3. Fanny Mochel MD
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  4. Georg F. Hoffmann MD
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Corresponding author

Correspondence to Angels García-Cazorla MD, PhD .

Editor information

Editors and Affiliations

  1. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany

    Georg F. Hoffmann

  2. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  3. Department of Pediatrics, University of California San Diego , La Jolla, California, USA

    William L. Nyhan

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García-Cazorla, A., Wolf, N.I., Mochel, F., Hoffmann, G.F. (2017). Neurological Disease. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_27

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  • DOI: https://doi.org/10.1007/978-3-662-49410-3_27

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  • Print ISBN: 978-3-662-49408-0

  • Online ISBN: 978-3-662-49410-3

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