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

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 ...