Therapy insight: inborn errors of metabolism in adult neurology--a clinical approach focused on treatable diseases.
Inborn errors of metabolism (IEMs) are genetic disorders characterized by dysfunction of an enzyme or other protein involved in cellular metabolism. In most cases, IEMs involve the nervous system. The first clinical symptoms of IEMs usually present in infancy, but in an unknown proportion of cases they can appear in adolescence or adulthood. In this Review, we focus on treatable IEMs, presenting acutely or chronically, that can be diagnosed in an adult neurology department. To make our presentation readily usable by clinicians, the Review is subdivided into eight sections according to the main clinical presentations: emergencies (acute encephalopathies and strokes), movement disorders, peripheral neuropathies, spastic paraparesis, cerebellar ataxia, psychiatric disorders, epilepsy and leukoencephalopathies. Our aim is to present simple guidelines to enable neurologists to avoid overlooking a treatable metabolic disease.
Sedel
Frédéric
F
Department of Neurology at Salpêtrière Hospital, Paris, France.
Lyon-Caen
Olivier
O
Saudubray
Jean-Marie
JM
D000328:Adult; D000367:Age Factors; D000818:Animals; D006801:Humans; D053858:Metabolic Networks and Pathways / Q000502:physiology; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*