Article
Prenatal treatment of ornithine transcarbamylase deficiency.
Molecular genetics and metabolism - 1 Mar 2018
Wilnai Yael, Blumenfeld Yair J, Cusmano Kristina, Hintz Susan R, Alcorn Deborah, Benitz William E, Berquist William E, Bernstein Jonathan A, Castillo Ricardo O, Concepcion Waldo, Cowan Tina M, Cox Kenneth L, Lyell Deirdre J, Esquivel Carlos O, Homeyer Margaret, Hudgins Louanne, Hurwitz Melissa, Palma Jonathan P, Schelley Susan, Akula Vishnu Priya, Summar Marshall L, Enns Gregory M
Abstract excerpt
PURPOSE OF STUDY: Patients with neonatal urea cycle defects (UCDs) typically experience severe hyperammonemia during the first days of life, which results in serious neurological injury or death. Long-term prognosis despite optimal pharmacological and dietary therapy is still poor. The combination of intravenous sodium phenylacetate and sodium benzoate (Ammonul®) can eliminate nitrogen waste independent of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.