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A full metabolic screen revealed type 1 tyrosinaemia. The opisthotonic posturing, a major part of this child\u2019s presentation, has not been reported as a presenting feature of tyrosinaemia. It was part of a \u2018neurological crisis\u2019 caused by tyrosinaemia and exacerbated by the intercurrent infection. These are known to occur in tyrosinaemia but not commonly as the first presentation. This represents an unusual presentation of a metabolic condition which, without intervention, can lead to severe hepatic, renal and neurodevelopmental complications.<\/jats:p>","DOI":"10.1136\/bcr-2018-226716","type":"journal-article","created":{"date-parts":[[2019,3,23]],"date-time":"2019-03-23T04:05:36Z","timestamp":1553313936000},"page":"e226716","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Unusual first presentation of a metabolic disorder"],"prefix":"10.1136","volume":"12","author":[{"given":"Claire Emma","family":"Strauss","sequence":"first","affiliation":[{"name":"Paediatrics, North Middlesex University Hospital NHS Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gayle","family":"Hann","sequence":"additional","affiliation":[{"name":"Paediatric Emergency Department, North Middlesex University Hospital NHS Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,3,22]]},"reference":[{"key":"2025082804435746000_12.3.e226716.1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.6220"},{"key":"2025082804435746000_12.3.e226716.2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.17.1741"},{"key":"2025082804435746000_12.3.e226716.3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.10.4641"},{"key":"2025082804435746000_12.3.e226716.4","doi-asserted-by":"crossref","unstructured":"Holme E Blau, et al. eds 2003 141\u201353.","DOI":"10.1007\/978-3-642-55878-8_10"},{"key":"2025082804435746000_12.3.e226716.5","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1203\/01.pdr.0000198810.57642.b4","article-title":"Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity","volume":"59","author":"Jacobs","year":"2006","journal-title":"Pediatr Res"},{"key":"2025082804435746000_12.3.e226716.6","unstructured":"Tyrosinemia Type 1. 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