ArticleMolecular genetics and metabolism reports2020
The PKU & ME study: A qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- Breaking Barriers: Stakeholder Insights into Physical Activity, Exercise, and Dietary Behaviours Among Individuals with Phenylketonuria (PKU).Healthcare (Basel, Switzerland) · 2026Article
- Observational
- Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism.Nutrients · 2025Article
- A scoping review of health literacy in rare disorders: key issues and research directions.Orphanet journal of rare diseases · 2024Article
- Article
- Adult PKU Clinics in the UK-Users' Experiences and Perspectives.Nutrients · 2023Article
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Transitioning of protein substitutes in patients with phenylketonuria: evaluation of current practice.Orphanet journal of rare diseases · 2022Article
- Article
- Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.Molecular genetics and metabolism reports · 2022Article
- Moving through adulthood: The lived experience of Irish adults with PKU.Frontiers in psychology · 2022Article
- PKU and COVID19: How the pandemic changed metabolic control.Molecular genetics and metabolism reports · 2021Article
- Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire.Molecular genetics and metabolism reports · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU) is a hereditary metabolic disease that can be diagnosed and successfully treated from birth with a lifelong phenylalanine-restricted dietary regimen. However, optimal adherence to diet remains an issue and often progressively decreases after adolescence. The study aimed to explore the experience of adults living with PKU in order to gain insights related to their adherence to diet and engagement in managing their condition.
methodsThe study adopted a qualitative methodology in sessions that combined specifically designed co-creation exercises with focus group discussion. Adults with early-treated classic PKU were enrolled for 2 different sessions - one for adherent and one for non-adherent patients. The verbatim notes of both sessions and focus group were analyzed using content analysis.
resultsTwelve adherent and nine non-adherent adults with PKU participated. Besides the behavioral dictates of following a strict diet, adherent adults reported a positive mental approach and organizational rigor; they seemed aware of the consequences of high-phenylalanine levels, reporting that it can affect mood and consequently social interactions which they value highly. In the non-adherent group, the individuals seemed to not fully accept their disease: they were aware of the consequences of non-adherence in children but not in adults, they felt the management of PKU was an individual burden and they experienced a feeling of 'diversity' in the social context (related to eating) that caused emotional distress. PKU seemed a very influential element of the identity both for adherent and non-adherent adults, but with different consequences for the two groups. Finally, all participants reported the desire to be assisted in a healthcare setting dedicated to adults.
conclusionsThe findings expand the understanding of the psychological experience of adult patients with PKU in relation to their disease and its dietary requirements, highlighting specific factors that might drive tailored educational or psychological intervention to improve adherence and engagement in the care process.
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