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We provide practical guidance on the investigation and management of this complex disorder. With a \u2018back to basics\u2019 approach to the underlying genetics and biochemistry, we hope to dispel some of the confusion that may obstruct a timely diagnosis.<\/jats:p>","DOI":"10.1136\/practneurol-2017-001878","type":"journal-article","created":{"date-parts":[[2018,3,14]],"date-time":"2018-03-14T12:25:27Z","timestamp":1521030327000},"page":"352-358","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":39,"title":["Porphyria: often discussed but too often missed"],"prefix":"10.1136","volume":"18","author":[{"given":"Ronan","family":"O\u2019Malley","sequence":"first","affiliation":[{"name":"Department of Neurology, Sheffield Teaching Hospitals (STH), Sheffield, UK"},{"name":"Department of Neuroscience, University of Sheffield, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganesh","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Sheffield, Sheffield, UK"},{"name":"Department of Neurophysiology, Sheffield Teaching Hospitals (STH), Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Penelope","family":"Stein","sequence":"additional","affiliation":[{"name":"Department of Haematological Medicine, Kings College Hospital NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3149-0252","authenticated-orcid":false,"given":"Oliver","family":"Bandmann","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sheffield Teaching Hospitals (STH), Sheffield, UK"},{"name":"Department of Neuroscience, University of Sheffield, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,3,14]]},"reference":[{"key":"2025090411574736000_18.5.352.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)61925-5"},{"key":"2025090411574736000_18.5.352.2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-8050-3"},{"key":"2025090411574736000_18.5.352.3","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1016\/j.jocn.2011.01.003","article-title":"The neurologic manifestations of the acute porphyrias","volume":"18","author":"Simon","year":"2011","journal-title":"J Clin Neurosci"},{"key":"2025090411574736000_18.5.352.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.0306-5251.2007.02955.x"},{"key":"2025090411574736000_18.5.352.5","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.1993.1424"},{"key":"2025090411574736000_18.5.352.6","doi-asserted-by":"publisher","DOI":"10.1016\/0891-5849(95)02035-7"},{"key":"2025090411574736000_18.5.352.7","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20137"},{"key":"2025090411574736000_18.5.352.8","unstructured":"Kramer S , Viljoen D , Becker D , et al . 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