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Journal of Inherited Metabolic Disease

, Volume 28, Issue 3, pp 407–414 | Cite as

Urea cycle defects: Management and outcome

  • M. C. Nassogne
  • B. Héron
  • G. Touati
  • D. Rabier
  • J. M. Saudubray
Article

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.

Keywords

Public Health Internal Medicine Mortality Rate Urea Metabolic Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • M. C. Nassogne
    • 1
    • 4
  • B. Héron
    • 2
  • G. Touati
    • 3
  • D. Rabier
    • 3
  • J. M. Saudubray
    • 3
  1. 1.Paediatric Neurology Unit, Department of PaediatricsSaint-Luc Hospital BrusselsBelgium
  2. 2.Department of Pediatric NeurologySaint Vincent de Paul HospitalParis
  3. 3.Departments of Metabolism and BiochemistryNecker-Enfants Malades HospitalParisFrance
  4. 4.Paediatric Neurology Unit, Department of PaediatricsSaint-Luc HospitalBruxellesBelgium

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