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Peripheral neuropathy and inborn errors of metabolism in adults
Author(s) -
Sedel F.,
Barnerias C.,
Dubourg O.,
Desguerres I.,
LyonCaen O.,
Saudubray JeanMarie
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0684-x
Subject(s) - medicine , mononeuropathy , peripheral neuropathy , peripheral nervous system , polyneuropathy , pediatrics , chronic inflammatory demyelinating polyneuropathy , pathology , central nervous system , endocrinology , diabetes mellitus , immunology , antibody
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.