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

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Journal of Inherited Metabolic Disease

Summary

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 recovered completely.

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Abbreviations

AFP:

α-fetoprotein

FAH:

fumarylacetoacetate hydroxylase

NTBC:

2-(2-nitro-4-trifluoromethyl-benzoyl)-1,3-cyclohexanedione

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Authors

Corresponding author

Correspondence to J.-U. Schlump.

Additional information

Communicating editor: Jean-Marie Saudubray

Competing interests: None declared

References to electronic databases: Tyrosinaemia type I: OMIM +276700.

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Schlump, JU., Perot, C., Ketteler, K. et al. Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment. J Inherit Metab Dis 31 (Suppl 2), 223–225 (2008). https://doi.org/10.1007/s10545-008-0807-z

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  • DOI: https://doi.org/10.1007/s10545-008-0807-z

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