eprintid: 10203588 rev_number: 7 eprint_status: archive userid: 699 dir: disk0/10/20/35/88 datestamp: 2025-01-20 11:05:28 lastmod: 2025-01-20 11:05:28 status_changed: 2025-01-20 11:05:28 type: article metadata_visibility: show sword_depositor: 699 creators_name: Dawson, Charlotte creators_name: Ramachandran, Radha creators_name: Safdar, Samreen creators_name: Murphy, Elaine creators_name: Swayne, Orlando creators_name: Katz, Jonathan creators_name: Newsome, Philip N creators_name: Geberhiwot, Tarekegn title: Severe neurological crisis in adult patients with Tyrosinemia type 1 ispublished: pub divisions: UCL divisions: B02 divisions: C07 divisions: D07 divisions: F82 note: © The Author(s), 2020. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. https://creativecommons.org/licenses/by/4.0/ abstract: We report six adult patients with Tyrosinaemia type 1 (HT-1) who presented with recurrent porphyria-like neurological crises after discontinuation/interruption of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) treatment. The crises were life-threatening for some of the patients, with respiratory muscle paralysis requiring ventilatory support, hemodynamic disturbance due to autonomic changes requiring resuscitation, acute progressive ascending motor neuropathy causing profound impairment, recurrent seizures, and neuropathic pain. Our patients’ porphyria-like presentations were variably misdiagnosed, with delay to diagnosis resulting in more severe recurrent attacks. We report the first series of neurological crises in adult patients with HT-1. These crises, which may be fatal, can be prevented and treated effectively with neurologist/physician awareness and patient education. date: 2020-08-21 date_type: published publisher: WILEY official_url: https://doi.org/10.1002/acn3.51160 oa_status: green full_text_type: pub language: eng primo: open primo_central: open_green verified: verified_manual elements_id: 1823746 doi: 10.1002/acn3.51160 medium: Print-Electronic lyricists_name: Swayne, Orlando lyricists_id: OBCSW66 actors_name: Swayne, Orlando actors_id: OBCSW66 actors_role: owner funding_acknowledgements: [National Institute of Health Research (NIHR) Birmingham Biomedical Research Centre (BRC)]; [Department of Health's NIHR Biomedical Research Centres' funding scheme] full_text_status: public publication: Annals of Clinical and Translational Neurology volume: 7 number: 9 pagerange: 1732-1737 pages: 6 event_location: United States issn: 2328-9503 citation: Dawson, Charlotte; Ramachandran, Radha; Safdar, Samreen; Murphy, Elaine; Swayne, Orlando; Katz, Jonathan; Newsome, Philip N; Dawson, Charlotte; Ramachandran, Radha; Safdar, Samreen; Murphy, Elaine; Swayne, Orlando; Katz, Jonathan; Newsome, Philip N; Geberhiwot, Tarekegn; - view fewer <#> (2020) Severe neurological crisis in adult patients with Tyrosinemia type 1. Annals of Clinical and Translational Neurology , 7 (9) pp. 1732-1737. 10.1002/acn3.51160 <https://doi.org/10.1002/acn3.51160>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/10203588/1/Ann%20Clin%20Transl%20Neurol%20-%202020%20-%20Dawson%20-%20Severe%20neurological%20crisis%20in%20adult%20patients%20with%20Tyrosinemia%20type%201.pdf