What is the most common treatment approach for Ornithine Transcarbamylase Deficiency?

The most common treatment approach for Ornithine Transcarbamylase (OTC) deficiency is liver transplant. This method addresses the underlying metabolic defect by providing a functional copy of the OTC gene, which is essential for the urea cycle. In OTC deficiency, the inability to properly process ammonia leads to toxic levels in the blood, which can cause severe neurological damage and can be life-threatening. A liver transplant not only corrects the metabolic deficiency but also mitigates the risk of acute metabolic crises associated with the condition.

Other treatment strategies, such as dietary restrictions or modifications, may be adopted to manage symptoms, but they do not correct the fundamental metabolic issue as effectively as a liver transplant. Thus, while options like increased fasting or dietary changes might be considered in different contexts, they do not provide the curative solution that a liver transplant does. Enzyme replacement therapy has not been established as a standard treatment for OTC deficiency due to the complexity and nature of enzyme delivery and stability in the human body, in contrast to the more definitive approach of transplantation.