Urea cycle defects: Management and outcome
- 843 Downloads
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.
KeywordsPublic Health Internal Medicine Mortality Rate Urea Metabolic Disease
Unable to display preview. Download preview PDF.