P518: Transition from pediatric to adult care for patients with inherited metabolic disorders: A scoping review of challenges, guidelines, and solutions

Introduction: Patients with inherited metabolic disorders (IMDs) have improved survival into adulthood.Many patients undergo inadequate transition from pediatric to adult care, leading to loss of health insurance and medication coverage, loss of specialist follow-up, and an increase in metabolic decompensation.The American Academy of Pediatrics (AAP), the American Academy of Family Physicians (AAFP), and the American College of Physicians (ACP) have jointly published guidelines emphasizing that transition should be a structured process that begins in early adolescence and is tailored to individual needs.Key components of transition include readiness assessment, development of self-management skills, transfer of care, and integration into adult care models.To date, no systematic or scoping review has summarized what is known about the transition process for patients with IMDs.Methods: We conducted a scoping review to answer the following questions: 1) Do patients with IMDs undergo high-quality transition to adult care, as defined by the AAP/AAFP/ACP?2) What challenges are encountered during the transition process? 3) What implementation strategies have been studied to improve the transition process?Following JBI Reviewer's Manual guidelines, an electronic literature search was performed by a medical librarian in September 2025 using Medline (Ovid), Embase (Elsevier), Core Collection (Web of Science), BIOSIS Previews (Web of Science), CINAHL (EBSCO), ClinicalTrials.gov,and Cochrane CEN-TRAL (Ovid).We incorporated controlled vocabulary and free-text synonyms for the concepts of transition to adult care and the selection of IMDs.All identified studies were deduplicated and uploaded to the Covidence systematic review software.Our population of interest was individuals diagnosed with IMDs transitioning from pediatric to adult healthcare.We included peer-reviewed articles on IMDs (listed in the International Classification of Inherited Metabolic Disorders) and on transition of care-focusing on challenges, outcomes, adherence to guidelines, and interventions-across all healthcare settings and countries.Papers are being independently reviewed in duplicate, and conflicts are being resolved through discussion.Results: Our initial query obtained 3,878 papers, of which 850 were duplicates.From the initial screening of titles and abstracts, 2,521 were determined ineligible.We moved 442 papers to the full-text review stage.As of November 2025, we are conducting a full-text review.After screening is completed, we will extract data, focusing on study characteristics, population details, descriptions of the transition process, adherence to guidelines, healthcare delivery models, identified challenges, outcomes assessments, and interventions and solutions.Preliminary appraisal of the records shows that phenylketonuria is the disorder with the greatest number of records retrieved, followed by a paucity of papers on other IMDs, including urea cycle disorders, lysosomal storage disorders, and others.We identified papers that included patients with IMDs in the context of transition in liver and kidney transplant patients, as well as literature that included patients with IMDs in the context of transition by other specialists, such as neurology.Challenges included loss of medication coverage, care fragmentation, poor specialist follow-up, and a scarcity of adult metabolism providers.Multiple papers mention the transition coordinator as an integral part of the multidisciplinary team.However, there is no consensus as to which metrics should be used to determine a successful transition process.Final outcomes and evidence synthesis will be presented at the 2026 ACMG Annual Clinical Genetics Meeting.Conclusion: This review will improve our understanding of the transition process to adult care for patients with IMDs, contribute to standardizing metrics to assess adequate transition for this population, and identify promising implementation strategies to be pursued in future studies.