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Knowledge and techniques for investigating <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>s have evolved rapidly; therefore adult patients with idiopathic <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> may benefit from an up\u2010to\u2010date aetiological work\u2010up. This review aims at establishing recommendations for investigating IEMs as a cause of <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> in adults.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>PubMed was searched for articles published between 2000 and 2015 regarding clinical work\u2010up, <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>s, <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> and adults. Information compiled from 61 articles is used to give practical suggestions from a clinical point of view.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Many <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>s that cause <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> are characterized by increased risk of specific somatic, neurological and psychiatric signs. Neurometabolic investigations of <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> should start with a thorough medical history, clinical examination and general screening in blood. Brain imaging with magnetic resonance imaging and if possible magnetic resonance spectroscopy should also be part of the initial work\u2010up. The aim is to detect abnormalities that give clues to a specific <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>. After the initial screening, a first tier of neurometabolic screening tests in blood and urine should be performed. If this fails to give diagnostic clues, a second tier of neurometabolic tests should be considered in order to secure that the treatable <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>s are detected. Whole exome sequencing techniques, when they become available in clinical settings, will offer new opportunities for detection of <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>s.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Based on a broad review of the current literature a systematic diagnostic work\u2010up to detect <jats:styled-content style=\"fixed-case\">IEM<\/jats:styled-content>s as a cause of <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content> in adults is suggested.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12884","type":"journal-article","created":{"date-parts":[[2015,11,13]],"date-time":"2015-11-13T08:43:07Z","timestamp":1447404187000},"page":"36-44","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway"],"prefix":"10.1111","volume":"23","author":[{"given":"S.","family":"Hope","sequence":"first","affiliation":[{"name":"Department of Neuro Habilitation Oslo University Hospital, Ullev\u00e5l Oslo Norway"},{"name":"NORMENT KG Jebsen Centre for Psychosis Research Institute of Clinical Medicine University of Oslo Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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