What clinical findings are associated with OTC deficiency?

Ornithine transcarbamylase (OTC) deficiency is a genetic disorder affecting the urea cycle, which results in the accumulation of ammonia in the bloodstream due to an inability to convert ammonia to urea effectively. The predominant clinical findings associated with OTC deficiency include elevated ammonia levels, which occur because ammonia is not adequately processed.

In this particular deficiency, the body also demonstrates a compensatory mechanism in response to the elevated ammonia. This can lead to respiratory alkalosis, as the body attempts to excrete excess CO2 through hyperventilation. Therefore, the combination of high ammonia levels alongside a tendency toward respiratory alkalosis accurately reflects the pathophysiological changes associated with OTC deficiency.

This understanding emphasizes the importance of recognizing elevated ammonia as a hallmark of urea cycle disorders, and the accompanying acid-base disturbance—characterized by respiratory alkalosis.