Format

Send to

Choose Destination
Curr Treat Options Neurol. 2003 Jul;5(4):309-319.

Urea Cycle Disorders.

Author information

1
Department of Molecular and Human Genetics and Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA. blee@bcm.tmc.edu

Abstract

Urea cycle disorders comprise a group of inborn errors of metabolism that represent unique gene-nutrient interactions whose significant morbidity arises from acute and chronic neurotoxicity associated with often massive hyperammonemia. Current paradigms of treatment are focused on controlling the flux of nitrogen transfer through the hepatic urea cycle by a combination of dietary and pharmacologic approaches. Evolving paradigms include the development of cell and gene therapies. Current research is focused on understanding the pathophysiology of ammonia-mediated toxicity and prevention of neural injury.

PMID:
12791198
DOI:
10.1007/s11940-003-0037-5

Supplemental Content

Loading ...
Support Center