Urea cycle disorders
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.
Publication ( Name of Journal)
Current Treatment Options in Neurology
(2003). Urea cycle disorders. Current Treatment Options in Neurology, 5(4), 309-319.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_emerg_med/122