Maternal and Newborn Care for Ornithine Transcarbamylase Deficiency

Ornithine transcarbamylase deficiency is the most common urea cycle disorder. If left untreated, pathogenic variants in the OTC gene can cause hyperammonemia leading to neurotoxicity, coma, and death. A comprehensive overview of ornithine transcarbamylase deficiency is presented including the genetic cause; varied age of onset, clinical presentation, and severity; diagnostic testing; and lifelong and anticipated future treatments. More specifically, there is a focus on the prenatal, natal, and postpartum course and treatment recommendations for genetic heterozygous (carrier) females and hemizygous male newborns with ornithine transcarbamylase deficiency.