Ornithine transcarbamylase deficiency (OTC deficiency), is a rare inborn error of metabolism (IEM) and X-linked disorder of the urea cycle caused by a deficiency of ornithine transcarbamylase. Ornithine transcarbamylase is responsible for processing nitrogen produced by the urea cycle. This disorder is characterized by a large accumulation of ammonia in the bloodstream. Symptoms of the disorder include lethargy, seizures, or coma. Treatment with hemodialysis is very effective in patients with high ammonia blood levels. It is estimated that ornithine transcarbamylase deficiency affects 1 in 14,000 to 1 in 77,000 individuals. These estimates are very different because adults with the late-onset form of ornithine transcarbamylase deficiency are less likely to come to medical attention.

Ornithine Transcarbamylase Deficiency (OTC Deficiency) References

Urea Cycle References