ReviewDrugs2019
Phenylketonuria: Current Treatments and Future Developments.
Review in Drugs, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06792240 (EVALUATION OF IRON INTAKE UPON BLASMA - PHENYLALANINE LEVELS IN PHENYLKETONURIA PATIENTS IN 3 YEARS LONGITUDINAL RANDOMIZED STUDY), which is not on this map. Cited by 42 papers, 3 of them syntheses that pooled it.
What it found
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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.
Evaluation of iron intake upon blasma - phenylalanine levels in phenylketonuria patients in 3 years longitudinal randomized study
Who cites it
42 citing papers in PubMed, 3 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Cognitive function in untreated subjects with mild hyperphenylalaninemia: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Pooled it
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- Improving phenylalanine and micronutrients status of children with phenylketonuria: a pilot randomized study.Orphanet journal of rare diseases · 2021Trial
- Decentralized rare disease studies in Germany: first results and hurdles of secondary use of patient data.BMC medical informatics and decision making · 2026Article
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria.EXCLI journal · 2026Article
- The integration of plasma non-target metabolomics and lipidomics analysis for the discovery of global developmental delay/intellectual disability biomarkers.Frontiers in cellular neuroscience · 2026Article
- Therapeutic effect of histone deacetylase 6 inhibitor for a mouse model of phenylketonuria.Scientific reports · 2025Article
- Synthetic closed-loop gene circuit for phenylalanine regulation.Nucleic acids research · 2025Article
- geneEX: An Integrated Phenotype-Driven Algorithm for Rapid Identification of Causative Variants in Monogenic Disorders.Molecular genetics & genomic medicine · 2025Article
- L-Phenylalanine promotes liver steatosis by inhibiting BNIP3-mediated mitophagy.Molecular medicine (Cambridge, Mass.) · 2025Article
- Advancements in CRISPR/Cas systems for disease treatment.Acta pharmaceutica Sinica. B · 2025Review
- Current Insights into Nutritional Management of Phenylketonuria: An Update for Children and Adolescents.Children (Basel, Switzerland) · 2025Review
- Potential applications of engineered bacteria in disease diagnosis and treatment.Microbiome research reports · 2025Review
- Metabolomics Analysis of the Mechanism of Yuquan Capsules in the Treatment of T2DM Rats Using UPLC/MS.Diabetes, metabolic syndrome and obesity : targets and therapy · 2025Article
- The future backbone of nutritional science: integrating public health priorities with system-oriented precision nutrition.The British journal of nutrition · 2024Review
- Amino Acid Profile Alterations in Phenylketonuria: Implications for Clinical Practice.Metabolites · 2024Article
- Production of low-protein cocoa powder with enzyme-assisted hydrolysis.Food science & nutrition · 2024Article
- A defined diet for pre-adult Drosophila melanogaster.Scientific reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylalanine hydroxylase (PAH) deficiency is an inborn error of metabolism that results in elevated phenylalanine levels in blood. The classical form of the disease with phenylalanine level > 1200 µmol/L in blood is called phenylketonuria (PKU) and is associated with severe intellectual disability when untreated. In addition, phenylalanine levels above the therapeutic range in pregnant female patients lead to adverse fetal effects. Lowering the plasma phenylalanine level prevents intellectual disability, maintaining the level in the therapeutic range of 120-360 µmol/L is associated with good outcome for patients as well as their pregnancies. Patient phenotypes are on a continuous spectrum from mild hyperphenylalaninemia to mild PKU, moderate PKU, and severe classic PKU. There is a good correlation between the biochemical phenotype and the patient's genotype. For over four decades the only available treatment was a very restrictive low phenylalanine diet. This changed in 2007 with the approval of cofactor therapy which is effective in up to 55% of patients depending on the population. Cofactor therapy typically is more effective in patients with milder forms of the disease and less effective in classical PKU. A new therapy has just been approved that can be effective in all patients with PAH deficiency regardless of their degree of enzyme deficiency or the severity of their phenotype. This article reviews the mainstay therapy, adjunct enzyme cofactor therapy, and the newly available enzyme substitution therapy for hyperphenylalaninemia. It also provides an outlook on emerging approaches for hyperphenylalaninemia treatment such as recruiting the microbiome into the therapeutic endeavor as well as therapies under development such as gene therapy.
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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.