Researcher from University Hospital Padova Publishes Findings in Urea Cycle Disorders (Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice).

A recent report from University Hospital Padova in Italy discusses the management of mild urea cycle disorders (UCDs) identified through newborn screening. UCDs are rare inborn errors of metabolism that can lead to serious health complications. The report emphasizes the importance of early diagnosis and treatment to improve survival and prevent complications. The researchers recommend completing the diagnosis through expanded newborn screening, following up with routine laboratory and metabolic profiles, and implementing a low-protein diet and nitrogen scavengers for therapy. Long-term follow-up should include growth and nutritional assessment, clinical and neurocognitive evaluation, and monitoring of laboratory and instrumental parameters. [Extracted from the article]