Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment

@article{Schlump2008SevereNC,
  title={Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment},
  author={J.-U. Schlump and C{\'e}line Perot and Katharina Ketteler and Manuel Schiff and Ertan Mayatepek and Udo Wendel and Ute Spiekerkoetter},
  journal={Journal of Inherited Metabolic Disease},
  year={2008},
  volume={31},
  pages={223-225}
}
Neurological crises do not occur in patients with tyrosinaemia type I treated with NTBC. We report an 8 month-old boy with severe neurological crisis after interruption of NTBC treatment including progressive ascending polyneuropathy and diaphragmatic paralysis, arterial hypertension, respiratory distress requiring mechanical ventilation who later also developed impaired liver function and tubulopathy. After re-introduction of NTBC the patient slowly regained normal neurological functions and… CONTINUE READING

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Neurologic crisis in hereditary tyrosinemia

  • G Mitchell, J Larochelle, M Lambert
  • N Engl J Med
  • 1990
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