Zusammenfassung
Late-onset forms of IEM presenting initially in adulthood are often unrecognised, so that their exact prevalence is unknown. Most often they have psychiatric or neurological manifestations, including atypical psychosis or depression, unexplained coma, peripheral neuropathy, cerebellar ataxia, spastic paraparesis, dementia, movement disorders and epilepsy. Physicians caring for adult patients with IEM are also involved in the management of those with-early onset forms who reach adulthood. The transfer of such patients from paediatric to adult care raises a number of medical, dietetic and social concerns. A further important issue is the diagnosis of adult patients who had their first clinical signs in childhood but for whom the diagnosis was missed, either because IEM were not considered or because the disease or its mild clinical form had not been described at that time.
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Mochel, F., Sedel, F. (2016). Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_2
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