ReviewNature reviews. Disease primers2021
Phenylketonuria.
Review in Nature reviews. Disease primers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05497050 (The Effect of Nursing Empowerment Program Applied to Families of PKU Children, Coping Attitudes of Families and Phenylalanine Levels of Children), which is not on this map. Cited by 263 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
The Effect of Nursing Empowerment Program Applied to Families of PKU Children, Coping Attitudes of Families and Phenylalanine Levels of Children
Who cites it
263 citing papers in PubMed, 3 syntheses or guidelines pooled it, 438 citations in OpenAlex.
- Metabolomic profiling in phenylketonuria: a systematic review of human studies.Metabolomics : Official journal of the Metabolomic Society · 2026Pooled it
- Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria.International journal of molecular sciences · 2023Pooled it
- Effects of a Prolonged-Release Protein Substitute on 24-h Phenylalanine and Tyrosine Profiles in Phenylketonuria: A Randomized Crossover Study.Nutrients · 2026Trial
- Randomized investigation to evaluate phenylalanine fluctuation after overnight fasting in PKU patients treated with prolonged-release versus standard amino acid protein substitute.Orphanet journal of rare diseases · 2026Trial
- Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial.Orphanet journal of rare diseases · 2026Trial
- Protein Substitute Absorption: A Randomised Controlled Trial Comparing CGMP vs. Amino Acids vs. Micellar Casein in Healthy Volunteers.Nutrients · 2025Trial
- Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria.Brain : a journal of neurology · 2024Trial
- Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria.Molecular genetics and metabolism reports · 2026Article
- Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.Annals of African medicine · 2026Review
- Article
- Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis.Online journal of public health informatics · 2026Article
- Clinical practice considerations for restarting pegvaliase in adults with phenylketonuria.Molecular genetics and metabolism reports · 2026Article
- Nanopore-enabled time-resolved monitoring of catecholamine-related phenylalanine metabolism.Nature nanotechnology · 2026Article
- Article
- Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Minicells derived fromApplied and environmental microbiology · 2026Article
- DNAJC12 Stabilizes Phenylalanine Hydroxylase and Facilitates Its Substrate-Dependent Activation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Analysis ofInternational journal of molecular sciences · 2026Article
- Carnitine, Amino Acids, Vitamins, and Hematological Status in Children with Classical Phenylketonuria: A Case-Control Study.Nutrients · 2026Article
203 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 6 institutions in 4 countries.
Funding
Abstract
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems. The prevalence varies worldwide, with an average of about 1:10,000 newborns. Early diagnosis is based on newborn screening, and if treatment is started early and continued, intelligence is within normal limits with, on average, some suboptimal neurocognitive function. Dietary restriction of phenylalanine has been the mainstay of treatment for over 60 years and has been highly successful, although outcomes are still suboptimal and patients can find the treatment difficult to adhere to. Pharmacological treatments are available, such as tetrahydrobiopterin, which is effective in only a minority of patients (usually those with milder PKU), and pegylated phenylalanine ammonia lyase, which requires daily subcutaneous injections and causes adverse immune responses. Given the drawbacks of these approaches, other treatments are in development, such as mRNA and gene therapy. Even though PAH deficiency is the most common defect of amino acid metabolism in humans, brain dysfunction in individuals with PKU is still not well understood and further research is needed to facilitate development of pathophysiology-driven treatments.
Indexed as
Identifiers
What OpenQuestion holds
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.