ornithine transcarbamylase deficiency
Ornithine transcarbamylase deficiency is a genetic disorder that affects the body's ability to break down proteins. It occurs when the body lacks enough of the enzyme ornithine transcarbamylase, which is essential for the urea cycle. This cycle helps remove ammonia, a toxic byproduct of protein metabolism, from the bloodstream. Without this enzyme, ammonia can build up, leading to serious health issues.
Symptoms of this condition can include vomiting, confusion, and lethargy, especially after consuming protein-rich foods. Diagnosis is typically made through blood tests that measure ammonia levels and genetic testing. Early detection and treatment are crucial to manage the condition and prevent complications.