Steiner, MD Neonates with profound and prolonged hyperammonemia with coma due to urea cycle defect will have had ... N-acetylglutamate synthetase deficiency; OTC, ornithine transcarbamylase ...

Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder. Urea cycle disorders are a group of inherited metabolic disorders that make it difficult for affected patients to ...

Just days later doctors diagnosed him with a rare genetic disorder called Ornithine Transcarbamylase Deficiency (OTC). “I think the actual stats are about one in every 35,000 have a urea cycle ...