Peripheral neuropathy and inborn errors of metabolism in adults.
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.
Sedel
F
F
Federation of Nervous System Diseases, Salpêtrière Hospital, 47 Boulevard de l'Hôpital, 75651, Paris cedex 13, France. frederic.sedel@psl.aphp.fr
Barnerias
C
C
Dubourg
O
O
Desguerres
I
I
Lyon-Caen
O
O
Saudubray
Jean-Marie
JM
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002908:Chronic Disease; D003663:Decision Trees; D003711:Demyelinating Diseases / Q000209:etiology; D003937:Diagnosis, Differential; D003951:Diagnostic Errors / Q000517:prevention & control; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology; D008875:Middle Aged; D020422:Mononeuropathies / Q000209:etiology; D016472:Motor Neuron Disease / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000209:etiology*; D011115:Polyneuropathies / Q000209:etiology; D009626:Terminology as Topic