Incidence disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany Austria and Switzerland

摘要

BackgroundUrea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifestation and short-term outcome.