ReviewJournal of inherited metabolic disease2008
The truth of treating patients with phenylketonuria after childhood: the need for a new guideline.
Review in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
30 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- A systematic review of cognitive functioning in early treated adults with phenylketonuria.Orphanet journal of rare diseases · 2018Pooled it
- Bone health in phenylketonuria: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2015Pooled it
- Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.Molecular genetics and metabolism · 2009Trial
- Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.Orphanet journal of rare diseases · 2026Article
- Nutritional Status and Physical Activity Levels in Adult Patients with Phenylketonuria.Nutrients · 2026Article
- Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye.BMC health services research · 2026Article
- Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience.Journal of clinical medicine · 2025Article
- Health Related Quality of Life of Caregivers of Children and Adolescents With Phenylketonuria: A Systematic Review.Global pediatric health · 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
- State-of-the-Art 2019 on Gene Therapy for Phenylketonuria.Human gene therapy · 2019Review
- A Comprehensive Review of Pegvaliase, an Enzyme Substitution Therapy for the Treatment of Phenylketonuria.Drug target insights · 2019Review
- Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels.Journal of nutrition and metabolism · 2018Article
- The complete European guidelines on phenylketonuria: diagnosis and treatment.Orphanet journal of rare diseases · 2017Review
- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis.JIMD reports · 2017Article
- The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK.Molecular genetics and metabolism reports · 2016Article
- Ten years of specialized adult care for phenylketonuria - a single-centre experience.Orphanet journal of rare diseases · 2016Article
- Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires.Orphanet journal of rare diseases · 2015Article
- Management of adult patients with phenylketonuria: survey results from 24 countries.European journal of pediatrics · 2015Article
- Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.Orphanet journal of rare diseases · 2013Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In recent years, an increasing number of national guidelines on the treatment of phenylketonuria (PKU) have emerged. Most of these guidelines are dedicated to the care of children, while less attention is paid to the care of adults, although all guidelines underline the importance of diet for life. This review aims to summarize issues that need to be addressed within a guideline on the treatment of PKU, especially when care for patients beyond childhood is concerned. In this respect, it is of importance that adult patients, both willing and unwilling to be treated, need a guideline for care and follow-up. In PKU there is certainly a need for an improved unified guideline, especially after childhood, although many of the considerations in this article also apply to recommendations for treatment of children. Such a guideline will be a tool to improve treatment in PKU patients but should also include recommendations for collecting data for clinical and research purposes. Guideline development should also focus on nutritional, neuropsychological and psychosocial issues and not only on target plasma phenylalanine concentrations. In addition, guidelines must address not only what has to be done but also how it can be done, thereby improving concordance with the recommendations for treatment and management.
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Registered trials
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