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
References
Chakrapani A, Holme E (2006) Disorders of tyrosine metabolism. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases, Diagnosis and Treatment, 4th edn. Berlin: Springer Verlag: 235–238.
Grompe M (2001) The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 21: 563–571.
Hostetter MK, Levy HL, Winter HS, et al (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med 308: 1265–1267.
Koelink CJ, van Hasselt P, van der Ploeg A, et al (2006) Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab 89(4): 310–315.
Lindblad B, Lindstedt S, Steen G (1974) On the enzymatic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 74: 4641–4645.
Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340: 813–817.
Mitchell G, Larochelle J, Lambert M, et al (1990) Neurologic crisis in hereditary tyrosinemia. N Engl J Med 322: 432–437.
Mitchell G, Grompe M, Lambert M, Tanguay R (2001) Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1777–1806.
Russo P, Mitchell G, Tanguay R (2001) Tyrosinemia: a review. Pediatr Dev Pathol 4: 212–221.
Stenson PD, Ball EV, Mort M, et al (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21: 577–581.
van Spronsen FJ, Thomasse Y, Smit GP, et al (1994) Hereditary tyrosinemia type 1: a new clinical classification with difference in prognosis on dietary treatment. Hepatology 20(5): 1187–1191.
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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