SynthesisNutrients2021
Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis.
Synthesis in Nutrients, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 4 of them syntheses that pooled it.
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Who cites it
37 citing papers in PubMed, 4 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.Orphanet journal of rare diseases · 2024Pooled it
- Morphofunctional Assessment beyond Malnutrition: Fat Mass Assessment in Adult Patients with Phenylketonuria-Systematic Review.Nutrients · 2024Pooled it
- Overweight and obesity in adult patients with phenylketonuria: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?Nutrients · 2022Pooled it
- Trial
- Carnitine, Amino Acids, Vitamins, and Hematological Status in Children with Classical Phenylketonuria: A Case-Control Study.Nutrients · 2026Article
- Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.Orphanet journal of rare diseases · 2026Article
- The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases.Orphanet journal of rare diseases · 2026Article
- Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.Orphanet journal of rare diseases · 2026Article
- Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status.Journal of inherited metabolic disease · 2026Article
- Observational
- The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.Nutrients · 2026Review
- Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study.Orphanet journal of rare diseases · 2025Article
- Navigating Adolescence with PKU: Adherence, Metabolic Control, and Wellbeing in a UK Clinical Centre.Nutrients · 2025Article
- Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years.Orphanet journal of rare diseases · 2025Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Current Insights into Nutritional Management of Phenylketonuria: An Update for Children and Adolescents.Children (Basel, Switzerland) · 2025Review
- Large Variations in Phenylalanine Concentrations Associate Adverse Cardiac Remodelling in Adult Patients With Phenylketonuria-A Long-Term CMR Study.Journal of cachexia, sarcopenia and muscle · 2025Article
- Phenylketonuria as an Adherence Disease.Patient preference and adherence · 2025Review
- Changes in the Gut and Oral Microbiome in Children with Phenylketonuria in the Context of Dietary Restrictions-A Preliminary Study.Nutrients · 2024Article
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although there is a general assumption that a phenylalanine (Phe)-restricted diet promotes overweight in patients with phenylketonuria (PKU), it is unclear if this presumption is supported by scientific evidence. This systematic review aimed to determine if patients with PKU are at a higher risk of overweight compared to healthy individuals. A literature search was carried out on PubMed, Cochrane Library, and Embase databases. Risk of bias of individual studies was assessed using the Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies, and the quality of the evidence for each outcome was assessed using the NutriGrade scoring system. From 829 articles identified, 15 were included in the systematic review and 12 in the meta-analysis. Body mass index (BMI) was similar between patients with PKU and healthy controls, providing no evidence to support the idea that a Phe-restricted diet is a risk factor for the development of overweight. However, a subgroup of patients with classical PKU had a significantly higher BMI than healthy controls. Given the increasing prevalence of overweight in the general population, patients with PKU require lifelong follow-up, receiving personalised nutritional counselling, with methodical nutritional status monitoring from a multidisciplinary team in inherited metabolic disorders.
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Registered trials
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.