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Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

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Journal of Inherited Metabolic Disease

Summary

Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases, neurotransmitter synthesis defects, energy metabolism disorders and lysosomal storage diseases. IEMs should not be missed as many are treatable. Here we briefly review IEMs causing movement disorders in adolescence and adults and propose a simple diagnostic approach to guide metabolic investigations based on the clinical course of symptoms, the type of abnormal movements, and brain MRI abnormalities.

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Authors and Affiliations

  1. Federation of Nervous System Diseases, Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, Paris, France

    F. Sedel, E. Roze, Y. Agid & M. Vidailhet

  2. Neurometabolic Unit, Federation of Nervous System Diseases, and Reference Center for Lysosomal Diseases, Salpêtrière Hospital, 47 Boulevard de l’Hôpital, 75651, Paris cedex 13, France

    F. Sedel

  3. Reference Center for Lysosomal Diseases, Salpêtrière Hospital, Paris, France

    F. Sedel

  4. National Reference Center for Metabolic Diseases, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France

    J.-M. Saudubray

  5. Université Paris Descartes (Paris V), Paris, France

    J.-M. Saudubray

  6. INSERM U-711, Université Pierre et Marie Curie (Paris VI), Paris, France

    E. Roze

  7. INSERM U679, Salpêtrière Hospital, Université Pierre et Marie Curie (Paris VI), Paris, France

    Y. Agid & M. Vidailhet

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  1. F. Sedel
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Correspondence to F. Sedel.

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Communicating editor: Georg Hoffmann

Competing interests: None declared

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Sedel, F., Saudubray, JM., Roze, E. et al. Movement disorders and inborn errors of metabolism in adults: A diagnostic approach. J Inherit Metab Dis 31, 308–318 (2008). https://doi.org/10.1007/s10545-008-0854-5

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