Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2005;28(3):407-14.
doi: 10.1007/s10545-005-0303-7.

Urea cycle defects: management and outcome

M C Nassogne  1 , B Héron, G Touati, D Rabier, J M Saudubray
Affiliations
Review

Urea cycle defects: management and outcome

M C Nassogne et al. J Inherit Metab Dis. 2005.

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.

PubMed Disclaimer

LinkOut - more resources