What is OTC Deficiency?

OTC, short for Ornithine TransCarbamylase, is an enzyme produced by the liver within the urea cycle, that’s VITAL for survival. Without it, the body is unable to metabolize protein, and the ammonia byproducts of protein are not broken down. Ammonia acts as a poison, and depending on how deficient one is of their OTC enzyme, this metabolic error can result in symptoms as minor as irritability, lethargy, and headaches, to major symptoms such as coma or death. The only way to cure severe OTCD is by getting rid of the defective liver, and replacing it with one that contains the enzyme. Enzyme replacement therapy is something scientists are working on, but liver transplant in the only permanent solution at this time. Cruz only had 2% OTC enzyme activity within his liver, which is why he should have been given a liver transplant in order to survive.

OTC is just one of the enzymes within the Urea Cycle, which is why a deficiency of OTC is classified as a Urea Cycle Disorder. If you or someone you know might need to know more about potential Urea Cycle disorders and their ranging metabolic symptoms, you can visit the National Urea Cycle Disorder Foundation for more information @ NUCDF.org

 

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