ArticleBMC public health2014
Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.
Article in BMC public health, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- The Economic and Humanistic Burden of Phenylketonuria Among Patients and Their Caregivers: A Systematic Literature Review.PharmacoEconomics - open · 2026Pooled it
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- Efficacy and safety of sapropterin dihydrochloride in patients with phenylketonuria: A meta-analysis of randomized controlled trials.British journal of clinical pharmacology · 2019Pooled it
- Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase.Molecular genetics and metabolism reports · 2026Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons.Molecular genetics and metabolism reports · 2024Article
- Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2024Article
- What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review.Orphanet journal of rare diseases · 2024Article
- Quality of Life in Patients with Phenylketonuria: A Systematic Review.Advanced biomedical research · 2024Review
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.Arquivos de neuro-psiquiatria · 2023Review
- Plant-based and vegetarian diets: an overview and definition of these dietary patterns.European journal of nutrition · 2023Review
- Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.Orphanet journal of rare diseases · 2022Article
- Quality of life in children living with PKU - a single-center, cross-sectional, observational study from Hungary.Molecular genetics and metabolism reports · 2021Article
- Phenylketonuria.Nature reviews. Disease primers · 2021Review
- 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
- Article
- Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.Genes · 2019Article
- Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.Orphanet journal of rare diseases · 2018Article
- Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria.JIMD reports · 2018Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that requires lifelong follow-up and intervention, which may represent strains on Quality of Life (QoL). This observational study evaluated QoL in a cohort of PKU patients, using updated and detailed instruments.
methods22 patients with mild PKU respondent to BH4 and 21 patients with classical PKU treated with diet were recruited in this study. Adult patients completed WHOQOL questionnaire-100 (WHOQOL-100) and pediatric patients the Pediatric QoL inventory (PedsQL(TM)). Psychiatric and mood disorders were also evaluated using TAD or BDI and STAI-Y inventories. A multivariable linear regression model was fitted to investigate the predictors of QoL, including age, sex, treatment type, length of current treatment, educational level and employment status (only for adults) as covariates. Results were presented as regression coefficients with 95% confidence interval.
resultsGlobal QoL scores were within normal range both in patients with mild and classical disease but global QoL scores were significantly higher in patients with mild PKU under BH4 treatment as compared to those affected by classical disease who were under diet regimen. Furthermore, QoL significantly increased in long treated PKU patients. Among adult patients, QoL scores were significantly lower in males, in patients with lower education and in those employed or unemployed as compared to students (baseline).
conclusionsBoth diet and medical treatment based upon BH4 seem to be associated with higher QoL in the long run. However, patients with mild PKU can rely on BH4 to achieve a higher Phe tolerance and a better compliance to therapy due to diet relaxation/avoidance. Some specific categories of patients with a lower QoL should be investigated more in depth, engaging with those at risk of lower treatment compliance. The questionnaires employed in the present study seemed to be able to effectively detect criticalities in QoL assessment and represent an advance from previous inventories employed in the past.
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