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Urea cycle defects: management and outcome.

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Nassogne, Marie-Cécile [UCL] Héron, B. [Department of Pediatric Neurology, Saint Vincent de Paul Hospital, Paris] Touati, G [Departments of Metabolism and Biochemistry, Necker-Enfants Malades Hospital, Paris, France] Rabier, D. [Departments of Metabolism and Biochemistry, Necker-Enfants Malades Hospital, Paris, France] Saudubray, J M [Departments of Metabolism and Biochemistry, Necker-Enfants Malades Hospital, Paris, France]

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.

Document type Article de périodique (Journal article) – Article de recherche – Journal Article, Review
Access type Accès restreint
Publication date 2005
Language Anglais
Journal information "Journal of inherited metabolic disease" - Vol. 28, no. 3, p. 407-714 (2005)
Peer reviewed yes
issn 0141-8955
Publication status Publié
Affiliations UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie
UCL - (SLuc) Service de neurologie pédiatrique
UCL - MD/NOPS - Département de neurologie et de psychiatrie
UCL - (SLuc) Service de neurologie pédiatrique
MESH Subject Adolescent ; Adult ; Aging - physiology ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Metabolism, Inborn Errors - diagnosis - epidemiology - therapy ; Retrospective Studies ; Treatment Outcome ; Urea - metabolism
Links
Bibliographic reference Nassogne, Marie-Cécile ; Héron, B. ; Touati, G ; Rabier, D. ; Saudubray, J M. Urea cycle defects: management and outcome.. In: Journal of inherited metabolic disease, Vol. 28, no. 3, p. 407-714 (2005)
Permanent URL http://hdl.handle.net/2078.1/29481