Evidence map›Paper›PMID 42835460›Full record

ArticleMolecular genetics and metabolism reports2026

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

Annieke Venema, Frederiec K Withaar, Foekje de Boer, Rianne M Cnossen- Bosma, Terry G J Derks, Danique Draaisma- van Vliet, Marieke J Fokkert-Wilts, Yteke Hoekstra, Melanie M van der Klauw, Charlotte M A Lubout and 2 more

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Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Annieke VenemaDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Frederiec K WithaarDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Foekje de BoerDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Rianne M Cnossen- BosmaDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Terry G J DerksDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Danique Draaisma- van VlietDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Marieke J Fokkert-WiltsDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Yteke HoekstraDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Melanie M van der KlauwDepartment of Endocrinology and Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Charlotte M A LuboutDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Francjan J van SpronsenDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Andrea B Haijer-SchreuderDepartment of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

BurdenEating problemsInherited metabolic disordersNutritional treatmentQualitative researchQuality of lifeSemi-structured interviewsSocial restrictions

Identifiers

PMID42835460
PMCPMC13635391

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.