Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency (OTCD). OTCD results in impairment to excrete nit...

Full description

Bibliographic Details
Main Authors: Maha Mourad, Johannes Häberle, Matthew T. Whitehead, Tamar Stricker, Andrea L. Gropman
Format: Article
Language:English
Published: MDPI AG 2016-11-01
Series:International Journal of Neonatal Screening
Subjects:
Online Access:http://www.mdpi.com/2409-515X/2/4/10