Recurrent pancreatitis in ornithine transcarbamylase deficiency

Ornithine transcarbamylase (OTC) deficiency is a urea cycle defect with varying frequency and severity of episodes of hyperammonemia. We report three patients with OTC deficiency with recurrent pancreatitis. The pathogenesis of acute pancreatitis in this patient population requires further elucidation. Pancreatitis significantly affected dietary/metabolic management and increased frequency of hospitalizations. ► We describe three patients with OTC deficiency and recurrent pancreatitis. ► Pancreatitis affected dietary management and increased frequency of hyperammonemia. ► The pathogenesis of acute pancreatitis requires further elucidation.