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Peripheral neuropathy and inborn errors of metabolism in adults

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Journal of Inherited Metabolic Disease

Summary

Although they are classically viewed as paediatric diseases, it is now recognized that inborn errors of metabolism (IEMs) can present at any age from childhood to adulthood. IEMs can involve the peripheral nervous system, mostly as part of a more diffuse neurological or systemic clinical picture. However, in some cases, the neuropathy can be the unique initial sign. Here, based on our personal experience and on a comprehensive literature analysis, we review IEMs causing neuropathies in adults. Diseases were classified according to the predominant type of neuropathies into (1) acute neuropathies, (2) mononeuropathy multiplex, (3) chronic axonal polyneuropathies, (4) chronic demyelinating polyneuropathies, (5) small-fibre neuropathies, and (6) lower motor neuron disease.

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Authors and Affiliations

  1. Federation of Nervous System Diseases, Salpêtrière Hospital, 47 Boulevard de l’Hôpital, 75651, Paris cedex 13, France

    F. Sedel

  2. Federation of Nervous System Diseases, The Salpêtrière Hospital, Pierre et Marie Curie University, Assistance Publique-Hôpitaux de Paris, Paris, France

    F. Sedel & O. Lyon-Caen

  3. Reference Center for Lysosomal Diseases, The Salpêtrière Hospital, Pierre et Marie Curie University, Assistance Publique-Hôpitaux de Paris, Paris, France

    F. Sedel

  4. Reference Center for Neuromuscular Diseases and Institute of Myology, The Salpêtrière Hospital, Pierre et Marie Curie University, Assistance Publique-Hôpitaux de Paris, Paris, France

    O. Dubourg & I. Desguerres

  5. Department of Pediatry and Metabolic Diseases, Reference Center for Metabolic Diseases, Necker-Enfants Malades Hospital, René-Descartes University, Assistance Publique-Hôpitaux de Paris, Paris, France

    C. Barnerias & Jean-Marie Saudubray

Authors
  1. F. Sedel
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  2. C. Barnerias
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  3. O. Dubourg
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  4. I. Desguerres
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  5. O. Lyon-Caen
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  6. Jean-Marie Saudubray
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Correspondence to F. Sedel.

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Communicating editor: Michael Gibson

Competing interests: None declared

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Sedel, F., Barnerias, C., Dubourg, O. et al. Peripheral neuropathy and inborn errors of metabolism in adults. J Inherit Metab Dis 30, 642–653 (2007). https://doi.org/10.1007/s10545-007-0684-x

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  • DOI: https://doi.org/10.1007/s10545-007-0684-x

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