392 - Challenges in Transitioning Care for Adolescents with Urea Cycle Disorders

Publication Number: 392.4563

Nicholas Ah Mew, Children's National Health System, Washington, DC, United States; Kara L. Simpson, Children’s National Hospital, Washington, DC, United States

Background: Urea Cycle Disorders (UCDs) are rare, inherited metabolic disorders (IMD) affecting protein metabolism that can lead to life-threatening hyperammonemia. While managed with diet and medication, patients with UCDs often face long-term challenges, including intellectual disabilities, executive dysfunction, and working memory difficulties. Preparing adolescents facing the transition from pediatric to adult care presents additional complexities in managing these conditions.

Objective: To characterize via retrospective chart review the challenges experienced by adolescents with UCD during the transition to adult care.

Design/Methods: We conducted a retrospective chart review of adolescents with Urea Cycle Disorders (UCDs) at the Children’s National Hospital (CNH) Rare Disease Institute who transitioned to adult care. CNH serves as a national referral center for UCDs and is the largest site of a natural history study of these disorders. Patient charts were reviewed to identify challenges encountered during the transition process, including but not limited to: adherence to dietary restrictions, medication management, psychological and social issues, and access to specialized care.

Results: A retrospective chart review identified 14 adolescents with UCDs who transitioned to adult care from 2009 to 2024. Beyond the typical challenges of adolescent transition, patients with UCDs experienced unique difficulties. Impaired executive functioning often led to non-adherence to dietary restrictions and medication regimens, as well as a decreased ability to recognize and respond to symptoms. Additionally, these cognitive impairments hindered independent living skills such as academic success in college, employment, driving, and meal preparation.
Social and emotional challenges were also prominent, including strained relationships with parents due to healthcare disagreements and difficulties in maintaining peer and romantic relationships. Two specific areas of concern that posed significant risks for metabolic decompensation were recreational drug and alcohol use and pregnancy. Finally, the limited availability of adult healthcare providers experienced in managing IMD was identified as a major barrier to successful transition.

Conclusion(s): Transitioning to adult care poses unique challenges for adolescents with Urea Cycle Disorders beyond those typically faced by young adults with chronic illnesses. Lessons learned from UCD transition may inform strategies and frameworks for best practices to guide transition of care in for other IMD.