ArticleMolecular genetics and metabolism reports2016
Phenylketonuria (PKU): A problem solved?
Article in Molecular genetics and metabolism reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis.Nutrients · 2021Pooled it
- Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria.Developmental neuropsychologyPooled it
- Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.Nature metabolism · 2023Trial
- Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers.Nutrients · 2021Trial
- Association of immune response with efficacy and safety outcomes in adults with phenylketonuria administered pegvaliase in phase 3 clinical trials.EBioMedicine · 2018Trial
- Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.Orphanet journal of rare diseases · 2018Trial
- Psychometric validation of the NIH Toolbox for use with individuals with phenylketonuria: Evidence from the PHEFREE consortium longitudinal study.Journal of the International Neuropsychological Society : JINS · 2026Article
- Article
- Breaking Barriers: Stakeholder Insights into Physical Activity, Exercise, and Dietary Behaviours Among Individuals with Phenylketonuria (PKU).Healthcare (Basel, Switzerland) · 2026Article
- Observational
- Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria.Orphanet journal of rare diseases · 2025Article
- SLC6A19 inhibition facilitates urinary neutral amino acid excretion and lowers plasma phenylalanine.JCI insight · 2024Article
- Growth Parameters and Prevalence of Obesity in PKU Patients and Peers: Is This the Right Comparison?Pediatric reports · 2024Article
- Nutrient Status and Intakes of Adults with Phenylketonuria.Nutrients · 2024Article
- Phenylalanine-Free Infant Formula in Patients with Phenylketonuria: A Retrospective Study.Nutrients · 2024Article
- First successful outcomes of pegvaliase (PALYNZIQ) in children.BMC medical genomics · 2024Article
- Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.Molecular genetics and metabolism reports · 2024Article
- State-of-the-art 2023 on gene therapy for phenylketonuria.Journal of inherited metabolic disease · 2024Review
- Review
- Health-related quality of life in a european sample of adults with early-treated classical PKU.Orphanet journal of rare diseases · 2023Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disabilities. The National PKU Alliance (NPKUA) conducted a survey of its membership to assess current health status and interest in new treatments for PKU. Of the 625 survey respondents, less than half (46.7%) reported blood Phe within (120-360 μmol/L) - the range recommended by the American College of Medical Genetics and Genomics (ACMG). The survey results also showed that younger (≤ 18 years) individuals were about 3-times as successful in keeping their blood Phe concentrations within the recommended clinical range compared with adults. Blood Phe over 360 μmol/L was reported in one-quarter (25.5%) of ≤ 18 year old individuals and almost two-thirds (61.5%) of adults. A little more than half (51.7%) of respondents reported having difficulty in managing their PKU, including the maintenance of a Phe-restricted diet. Individuals with PKU desire new treatments that would allow them to increase their intake of natural protein, discontinue or reduce their intake of medical foods (medical formula and foods modified to be low in protein), improve their mental health (including a reduction in depression and anxiety), and a reduction of their blood Phe concentrations. Respondents preferred oral administration of any newly developed therapies and, in general, disliked therapeutic injections. Injections at home were preferred over injections at a clinic. Payers, government agencies, clinicians, and industry partners should consider patient input when developing and approving new therapies and treatments for PKU.
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Registered trials
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