Navigating adulthood with maple syrup urine disease: patient and caregiver perspectives on healthcare transition and independent living
6 affiliations
- 1Division of Medical Genetics, Department of Pediatrics, Cohen Children’s Medical Center
- 2Department of Family Medicine and Community Health, Perelman School of Medicine, University of Pennsylvania
- 3Teachers College, Columbia University
- 4Institute of Health System Science, Feinstein Institutes for Medical Research, Northwell
- 5MedStar Health National Center for Human Factors in Healthcare
- 6Perelman School of Medicine, Division of Human Genetics, University of Philadelphia, Children’s Hospital of Philadelphia
Abstract
Background Medical advances in diagnosis and management have increased the life expectancy of many pediatric-onset rare diseases, including inherited metabolic disorders (IMDs). Historically fatal childhood conditions are now manageable chronic illnesses, with over 90% of individuals with IMD reaching adulthood. As more individuals with IMDs reach adulthood (age 18 years), there is a new imperative for health care transition planning that promotes developmentally-appropriate skills for medical self-management and independent living. Knowledge gaps on the long-term disease-related outcomes limit our ability to provide evidence-based resources for transition. Maple Syrup Urine Disease (MSUD) is an IMD with a global incidence of 1:185,000. It is increasingly diagnosed through population-level newborn screening, which allows for early treatment with dietary restrictions of branched chain amino acids and urgent intervention during episodes of catabolic stress. Due to the success of newborn screening programs, there is a growing population of adults with MSUD, making it a model for exploring the current state of transition and adult outcomes in IMDs. Results We used a qualitative case-study approach to assess the lived experiences of adults with MSUD (n = 10) or caregivers to adults with MSUD (n = 8). Analysis of their semi-structured interviews identified common themes including: (1) poor, non-standardized health care transition; (2) less emphasis on dietary management; (3) changing symptomatology with new presentations of fatigue, brain fog, and panic attacks; (3) emerging concerns related to adult health care, including comorbid adult-onset conditions, mental health, and lack of knowledgeable adult providers; (4) wide-ranging functional outcomes for education, employment, and financial independence; and (5) attainment of new milestones including romantic partnership and parenthood; and (6) greater concern about the supports needed to achieve independent living. Conclusions Individuals with MSUD are reaching milestones of adulthood and have new priorities for their healthcare and lifestyle. Evidence-based healthcare transition is needed to support their transition to independent living.
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BibTeX
@article{gold2026navigating,
title = {{Navigating adulthood with maple syrup urine disease: patient and caregiver perspectives on healthcare transition and independent living}},
author = {Jessica I. Gold and Megan Grabill and Karen Dolins and Melissa Basile and Bat-Zion Hose and Rebecca Ganetzky},
journal = {Orphanet Journal of Rare Diseases},
year = {2026},
month = jul,
doi = {10.1186/s13023-026-04383-6},
url = {https://doi.org/10.1186/s13023-026-04383-6},
note = {CC BY},
}
RIS
TY - JOUR
TI - Navigating adulthood with maple syrup urine disease: patient and caregiver perspectives on healthcare transition and independent living
AU - Jessica I. Gold
AU - Megan Grabill
AU - Karen Dolins
AU - Melissa Basile
AU - Bat-Zion Hose
AU - Rebecca Ganetzky
PY - 2026
DA - 2026/07/01
JO - Orphanet Journal of Rare Diseases
DO - 10.1186/s13023-026-04383-6
UR - https://doi.org/10.1186/s13023-026-04383-6
AB - Background Medical advances in diagnosis and management have increased the life expectancy of many pediatric-onset rare diseases, including inherited metabolic disorders (IMDs). Historically fatal childhood conditions are now manageable chronic illnesses, with over 90% of individuals with IMD reaching adulthood. As more individuals with IMDs reach adulthood (age 18 years), there is a new imperative for health care transition planning that promotes developmentally-appropriate skills for medical self-management and independent living. Knowledge gaps on the long-term disease-related outcomes limit our ability to provide evidence-based resources for transition. Maple Syrup Urine Disease (MSUD) is an IMD with a global incidence of 1:185,000. It is increasingly diagnosed through population-level newborn screening, which allows for early treatment with dietary restrictions of branched chain amino acids and urgent intervention during episodes of catabolic stress. Due to the success of newborn screening programs, there is a growing population of adults with MSUD, making it a model for exploring the current state of transition and adult outcomes in IMDs. Results We used a qualitative case-study approach to assess the lived experiences of adults with MSUD (n = 10) or caregivers to adults with MSUD (n = 8). Analysis of their semi-structured interviews identified common themes including: (1) poor, non-standardized health care transition; (2) less emphasis on dietary management; (3) changing symptomatology with new presentations of fatigue, brain fog, and panic attacks; (3) emerging concerns related to adult health care, including comorbid adult-onset conditions, mental health, and lack of knowledgeable adult providers; (4) wide-ranging functional outcomes for education, employment, and financial independence; and (5) attainment of new milestones including romantic partnership and parenthood; and (6) greater concern about the supports needed to achieve independent living. Conclusions Individuals with MSUD are reaching milestones of adulthood and have new priorities for their healthcare and lifestyle. Evidence-based healthcare transition is needed to support their transition to independent living.
SN - 1750-1172
ER -