title: Urea cycle defects: management and outcome.
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.
authors.affiliation: Paediatric Neurology Unit, Department of Paediatrics, Saint-Luc Hospital Brussels, Belgium. marie-cecile.nassogne@nepe.ucl.ac.be
authors.forename: M C
authors.initials: MC
authors.lastname: Nassogne
authors.forename: B
authors.initials: B
authors.lastname: Héron
authors.forename: G
authors.initials: G
authors.lastname: Touati
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy*; D012189:Retrospective Studies; D016896:Treatment Outcome; D014508:Urea / Q000378:metabolism*
chemical_list: D014508:Urea