The psychological burden of nutritional treatment in inherited metabolic disorders: Navigating daily life

Introduction Inherited metabolic disorders (IMD) are a heterogeneous group of rare diseases, many of which require medically prescribed nutritional treatment. Maintaining such treatment can impose a psychological burden on people with IMD and their caregivers. Previous research in our center highlighted the need for deeper insight into this burden. Method This study consisted of a scoping review and semi-structured interviews. A scoping review, conducted in PubMed and PsycINFO, focused on psychological outcomes related to nutritional treatment. Semi-structured interviews were held with people with IMD receiving nutritional treatment and their caregivers, exploring experiences of living with and managing nutritional treatment. Interviews were analyzed qualitatively following Braun & Clarke's principles. Results The scoping review initially identified 2562 records, of which 52 articles were included. Seventeen interviews were conducted, involving twenty participants aged 8 months to 51 years, representing diverse cultural and socio-economic backgrounds. The qualitative analysis resulted in five main themes. Conclusion Nutritional treatment in IMDs is often experienced as burdensome and can affect psychological well-being. Participants reported daily inconveniences, social limitations, and reduced spontaneity. At the same time, many described eventually finding ways to manage the treatment and reaching a level of acceptance, integrating both the IMD and its nutritional demands into their lives. Take-home message Nutritional treatment in IMDs can place a substantial psychological burden on individuals and caregivers, yet many ultimately find ways to integrate these demands into daily life. Understanding this lived experience is essential to improving long-term support.