Urea cycle defects: management and outcome.

Nassogne, Marie-Cécile;Héron, B.;Touati, G;Rabier, D.;Saudubray, J M
(2005) Journal of inherited metabolic disease — Vol. 28, n° 3, p. 407-714 (2005)

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Authors
  • Nassogne, Marie-CécileUCLouvain
    Author
  • Héron, B.Department of Pediatric Neurology, Saint Vincent de Paul Hospital, Paris
    Author
  • Touati, GDepartments of Metabolism and Biochemistry, Necker-Enfants Malades Hospital, Paris, France
    Author
  • Rabier, D.Departments of Metabolism and Biochemistry, Necker-Enfants Malades Hospital, Paris, France
    Author
  • Saudubray, J MDepartments of Metabolism and Biochemistry, Necker-Enfants Malades Hospital, Paris, France
    Author
Abstract
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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Nassogne, M.-C., Héron, B., Touati, G., Rabier, D., & Saudubray, J. M. (2005). Urea cycle defects: management and outcome. Journal of inherited metabolic disease, 28(3), 407-714. https://doi.org/10.1007/s10545-005-0303-7 (Original work published 2005)