NIH R01 · 2025
Project Summary/ Abstract Urea cycle disorders (UCDs) result from inherited deficiencies in any of the eight proteins that function in the essential biochemical pathway that converts neurotoxic ammonia into urea. Infants with neonatal onset UCDs often appear healthy at birth, but the rapid accumulation of ammonia in their blood and brain can lead to coma and death. Although timely diagnosis and treatment is key to improving patient outcome, the sensitivity, specificity, and variability of the biochemical assays for several UCDs have limited their use in newborn screening. Genome sequencing has the potential to simultaneously screen for most inherited diseases that arise in the newborn…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.