Hyperammonemia due to Ornithine Transcarbamylase Deficiency

📋Overview

Hyperammonemia due to Ornithine Transcarbamylase (OTC) Deficiency is a genetic disorder causing impaired function of the OTC enzyme, which is critical in the urea cycle. This leads to accumulation of ammonia in the blood, a toxic substance normally removed by the liver. OTC deficiency is the most common urea cycle disorder and is inherited in an X-linked manner. The condition primarily affects the liver's ability to detoxify ammonia, resulting in neurological symptoms and metabolic crises if untreated.