Severe neurological crisis in adult patients with Tyrosinemia type 1

Research output: Contribution to journalArticlepeer-review


  • Charlotte Dawson
  • Radha Ramachandran
  • Samreen Safdar
  • Elaine Murphy
  • Orlando Swayne
  • Jonathan Katz
  • Tarekegn Geberhiwot

Colleges, School and Institutes

External organisations

  • Queen Elizabeth Hospital Birmingham, Queen Elizabeth Medical Centre
  • Adult Inherited Metabolic Disease Unit
  • National Hospital for Neurology and Neurosurgery, London
  • Department of Endocrinology


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.

Bibliographic note

© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.


Original languageEnglish
Pages (from-to)1732-1737
JournalAnnals of Clinical and Translational Neurology
Issue number9
Early online date21 Aug 2020
Publication statusPublished - 9 Sep 2020