A multicenter descriptive study of neonatal-onset urea cycle disorder patients hospitalized in level IV NICUs

The objective of this study was to characterize the neonatal intensive care unit (NICU) course and outcomes for infants with neonatal-onset urea cycle disorders (UCDs).

Using the multicenter Children's Hospitals Neonatal Database, a descriptive, retrospective cohort study was performed to characterize the presentation, interventions, comorbidities, and hospital outcomes for 176 patients with neonatal-onset UCDs that required level IV NICU care.

The median age of presentation was 5 [3,7] days, with 167 (95%) infants requiring transfer to a level IV NICU. Renal replacement therapy was undertaken for at least 34 (20%) patients. Neurologic complications occurred most frequently, with 71 (40%) patients affected. Twenty-one (12%) infants experienced in-hospital mortality. Interventions, complications, and mortality were observed most frequently in the ornithine transcarbamylase deficiency group.

Neonatal-onset UCDs are associated with significant morbidity and mortality, but heterogeneity exists among the specific named UCDs.