{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:40:10Z","timestamp":1791304810406,"version":"4.3.1"},"reference-count":49,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,8,10]],"date-time":"2007-08-10T00:00:00Z","timestamp":1186704000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Inborn errors of metabolism (IEMs) may present in adolescence or adulthood as a psychiatric disorder. In some instances, an IEM is suspected because of informative family history or because psychiatric symptoms form part of a more diffuse clinical picture with systemic, cognitive or motor neurological signs. However, in some cases, psychiatric signs may be apparently isolated. We propose a schematic classification of IEMs into three groups according to the type of psychiatric signs at onset. Group 1 represents emergencies, in which disorders can present with acute and recurrent attacks of confusion, sometimes misdiagnosed as acute psychosis. Diseases in this group include urea cycle defects, homocysteine remethylation defects and porphyrias. Group 2 includes diseases with chronic psychiatric symptoms arising in adolescence or adulthood. Catatonia, visual hallucinations, and aggravation with treatments are often observed. This group includes homocystinurias, Wilson disease, adrenoleukodystrophy and some lysosomal disorders. Group 3 is characterized by mild mental retardation and late\u2010onset behavioural or personality changes. This includes homocystinurias, cerebrotendinous xanthomatosis, nonketotic hyperglycinaemia, monoamine oxidase A deficiency, succinic semialdehyde dehydrogenase deficiency, creatine transporter deficiency, and \u03b1 and \u03b2 mannosidosis. Because specific treatments should be more effective at the \u2018psychiatric stage\u2019 before the occurrence of irreversible neurological lesions, clinicians should be aware of atypical psychiatric symptoms or subtle organic signs that are suggestive of an IEM. Here we present an overview of IEMs potentially revealed by psychiatric problems in adolescence or adulthood and provide a diagnostic strategy to guide metabolic investigations.<\/jats:p>","DOI":"10.1007\/s10545-007-0661-4","type":"journal-article","created":{"date-parts":[[2007,8,10]],"date-time":"2007-08-10T11:42:11Z","timestamp":1186746131000},"page":"631-641","source":"Crossref","is-referenced-by-count":162,"title":["Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults"],"prefix":"10.1002","volume":"30","author":[{"given":"F.","family":"Sedel","sequence":"first","affiliation":[{"name":"Federation of Nervous System Diseases H\u00f4pital de la Salp\u00eatri\u00e8re 47 Boulevard de l'H\u00f4pital Paris cedex 13 75651 France"},{"name":"National Reference Center for Lysosomal Diseases H\u00f4pital de la Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Baumann","sequence":"additional","affiliation":[{"name":"Unit\u00e9 mixte de recherche INSERM U\u2010711 H\u00f4pital de la Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010C.","family":"Turpin","sequence":"additional","affiliation":[{"name":"Unit\u00e9 mixte de recherche INSERM U\u2010711 H\u00f4pital de la Salp\u00eatri\u00e8re Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Lyon\u2010Caen","sequence":"additional","affiliation":[{"name":"Federation of Nervous System Diseases H\u00f4pital de la Salp\u00eatri\u00e8re 47 Boulevard de l'H\u00f4pital Paris cedex 13 75651 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010M.","family":"Saudubray","sequence":"additional","affiliation":[{"name":"National Reference Center for Metabolic Diseases Necker\u2010enfants malades 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