Treatment
Since the disease results in an inability to handle large amounts of nitrogen load, the treatment includes strategies to decrease the intake of nitrogen (low-protein diet), prevention of excessive body protein breakdown during acute illnesses (hydration and nutrition) and administration of medications scavenging nitrogen (sodium benzoate and sodium phenylbutyrate). Some patients may need to have supplemental amino acids (arginine, citrulline, valine, leucine, isoleucine). Arginine in particular may be useful due to its role in the urea cycle, but it is also pro-viral and excess nitric oxide (which is synthesized from arginine) can be problematic. Biotin may also be useful due to its stimulatory effect on the ornithine transcarbaylase enzyme and its reported ability to reduce ammonia levels in experimental animal studies.
In cases where the OTC enzyme production is very low or non-existent and treatment consisting of low-protein diet and dietary supplementation are inadequate, liver transplant may become a treatment option.
New efforts to combat the illness starts with prenatal treatment to protect the fetus which has been identified with OTC deficiency through amniocentesis. There is a case report of success using this approach.
Read more about this topic: Ornithine Transcarbamylase Deficiency
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