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Updated: Jul 11, 2026

Three-dimensional Imaging and Analysis of Mitochondria within Human Intraepidermal Nerve Fibers
Published on: September 29, 2017
Peripheral neuropathy and inborn errors of metabolism in adults
F Sedel1, C Barnerias, O Dubourg
1Federation of Nervous System Diseases, Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651, Paris cedex 13, France. frederic.sedel@psl.aphp.fr
Abstract:
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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