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Urea cycle defects: Management and outcome

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Journal of Inherited Metabolic Disease

Summary

This paper reviews the clinical presentation of 217 patients with urea cycle defects, including 121 patients with neonatal-onset forms and 96 patients with late-onset forms. Long-term outcome of these patients is also reported with the severity of the neonatal forms of these disorders, mostly for ornithine carbamoyltransferase-deficient males. Patients with late-onset forms may present at any age and carry a 28% mortality rate and a subsequent risk of subsequent disabilities.

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Authors and Affiliations

  1. Paediatric Neurology Unit, Department of Paediatrics, Saint-Luc Hospital Brussels, Belgium

    M. C. Nassogne

  2. Department of Pediatric Neurology, Saint Vincent de Paul Hospital, Paris

    B. Héron

  3. Departments of Metabolism and Biochemistry, Necker-Enfants Malades Hospital, Paris, France

    G. Touati, D. Rabier & J. M. Saudubray

  4. Paediatric Neurology Unit, Department of Paediatrics, Saint-Luc Hospital, Avenue Hippocrate, 10/1067, B-1200, Bruxelles, Belgium

    M. C. Nassogne

Authors
  1. M. C. Nassogne
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  2. B. Héron
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  3. G. Touati
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  4. D. Rabier
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  5. J. M. Saudubray
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Corresponding author

Correspondence to M. C. Nassogne.

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Nassogne, M.C., Héron, B., Touati, G. et al. Urea cycle defects: Management and outcome. J Inherit Metab Dis 28, 407–414 (2005). https://doi.org/10.1007/s10545-005-0303-7

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  • DOI: https://doi.org/10.1007/s10545-005-0303-7

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