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Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical
Aida Deudero1, Esther Lasheras2, Roser Ventura3
1Inherited Metabolic Diseases and Muscular Disorders' Research Laboratory, Centre de Recerca Biomèdica CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.
Insights
A structured transition program effectively moved 94 inborn errors of metabolism (IEM) patients from pediatric to adult care. This model ensures continuity of care and patient empowerment through interdisciplinary collaboration.
Area of Science:
- Medical Genetics
- Metabolic Disorders
- Healthcare Management
Background:
- Inborn errors of metabolism (IEM) are chronic genetic disorders with increasing prevalence.
- Improved diagnosis and treatment have led to longer lifespans for IEM patients.
- Specialized adult care and structured transition programs are crucial for this growing population.
Purpose of the Study:
- To present a functional transition model for inborn errors of metabolism (IEM) patients.
- To share the implementation experience of a collaborative pediatric-adult care transfer program.
- To establish a framework for lifelong management of IEM in adult settings.
Main Methods:
- A partnership between pediatric (HSJD) and adult (HCB) centers initiated in 2012.
- Implementation of the structured A10! Programme for patient transference starting in 2019.
- Utilized regular inter-center meetings and joint sessions for protocol harmonization and care planning.
- Engaged multidisciplinary teams, patients, and families to facilitate the transfer process.
Main Results:
- Successfully transferred 94 inborn errors of metabolism (IEM) patients between 2019 and 2024.
- Included diverse IEM diagnoses, with intermediary metabolism defects being the most common (71.23%).
- Employed various transition formats: 21 in-person, 37 remote (during COVID-19), and 36 streamlined transfers.
- Facilitated protocol exchange and understanding of patient needs through collaborative sessions.
Conclusions:
- Successful IEM patient transference necessitates structured programs with interdisciplinary pediatric and adult teams.
- Effective communication between transition units is vital for continuity of care and patient empowerment.
- The implemented model is effective, scalable, and positively evaluated by professionals and patients for lifelong IEM management.
Abstract:
Background/Objectives: Inborn errors of metabolism (IEM) are chronic, life-threatening genetic disorders with a significant cumulative prevalence worldwide. Advances in early diagnosis and treatment have significantly increased life expectancy, underscoring the need for specialised adult care units and the establishment of structured transition programmes from paediatric to adult services. We hereby present a functional transition model for IEM patients and share our implementation experience. Methods: Initiated in 2012, the partnership between the paediatric Hospital Sant Joan de Déu (HSJD) and the adult-care centre at Hospital Clinic of Barcelona (HCB) culminated in 2019 with the transference of the first IEM patients under the structured A10! Programme. This model is structured around the transition units of paediatric and adult centres to guarantee communication and functional management. Regular monthly meetings at each centre and joint quarterly sessions allowed for protocol harmonisation and personalised care planning. Coordinated engagement of the multidisciplinary health care teams with patients and families smoothed the transfer process. Results: Between 2019 and 2024, 94 IEM patients were successfully transferred. Diagnoses included intermediary metabolism defects (71.23%), lipid metabolism and transport disorders (4.25%), heterocyclic compound metabolism (2.12%), complex molecules and organelle dysfunction (6.37%), cofactor and mineral metabolism (2.12%), signalling defects (5.31%), and unclassified cases (8.51% of rare disorders, maybe non-IEM). Transition formats included 21 in-person joint visits in HSJD, 37 remote transitions during the COVID-19 pandemic, and 36 streamlined transfers via standardised protocols. Sessions, trainings, and meetings allowed the exchange of patients' needs and protocols. Conclusions: The successful transference of IEM patients requires structured programmes with interdisciplinary paediatric and adult teams, joining efforts with the patient, families, and caregivers. Communication between paediatric and adult transition units is essential to promote continuity of care and patient empowerment. While constantly updated, this model has proven effective, gaining positive evaluations from healthcare professionals and patients alike, representing a scalable framework for lifelong management of IEM in adult care settings.
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