ReviewFrontiers in psychiatry2019
Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments.
Review in Frontiers in psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 5 of them syntheses that pooled it.
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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
79 citing papers in PubMed, 5 syntheses or guidelines pooled it, 160 citations in OpenAlex.
- Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.Nutrients · 2025Pooled it
- Meta-analysis of bone mineral density in adults with phenylketonuria.Orphanet journal of rare diseases · 2024Pooled it
- Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.Orphanet journal of rare diseases · 2024Pooled it
- Functional contribution of the intestinal microbiome in autism spectrum disorder, attention deficit hyperactivity disorder, and Rett syndrome: a systematic review of pediatric and adult studies.Frontiers in neuroscience · 2024Pooled it
- Characterisation and differential diagnosis of neurological complications in adults with phenylketonuria: literature review and expert opinion.Journal of neurology · 2023Pooled it
- 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
- Breath Signatures of Antiseizure Medication Response and Tolerability in Adults With Epilepsy.CNS neuroscience & therapeutics · 2026Observational
- Integrated network pharmacology and serum metabolomics to reveal the protective mechanism of methanolic extract of BaiYangJie on cisplatin-induced acute kidney injury in mice.Experimental and therapeutic medicine · 2026Article
- Phenylalanine Transport through LAT1: Insights from Molecular Dynamics, Steered Molecular Dynamics, and Targeted Molecular Dynamics.The journal of physical chemistry. B · 2026Article
- Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.Orphanet journal of rare diseases · 2026Article
- Article
- Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase.Molecular genetics and metabolism reports · 2026Article
- Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study.Journal of inherited metabolic disease · 2026Article
- Improved dietary control results in improvements in indices of white matter structure in adults with phenylketonuria: the ReDAPT study.Acta neuropsychiatrica · 2026Article
- Integrating metabolomics and machine learning with in silico analysis to identify early biomarkers and molecular interactions in sepsis-associated acute kidney injury.Scientific reports · 2026Article
- Article
- Observational
- Article
- Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition.Orphanet journal of rare diseases · 2026Article
- Research on the role of gut microbiota metabolites in autism by multi-omics and network pharmacology.Frontiers in microbiology · 2026Article
19 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
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in significant hyperphenylalaninemia, which leads to alterations in cerebral myelin and protein synthesis, as well as reduced levels of serotonin, dopamine, and noradrenaline in the brain. When untreated, brain development is grossly disrupted and significant intellectual impairment and behavioral disturbance occur. The advent of neonatal heel prick screening has allowed for diagnosis at birth, and the institution of a phenylalanine restricted diet. Dietary treatment, particularly when maintained across neurodevelopment and well into adulthood, has resulted in markedly improved outcomes at a cognitive and psychiatric level for individuals with PKU. However, few individuals can maintain full dietary control lifelong, and even with good control, an elevated risk remains of-in particular-mood, anxiety, and attentional disorders across the lifespan. Increasingly, dietary recommendations focus on maintaining continuous dietary treatment lifelong to optimize psychiatric and cognitive outcomes, although the effect of long-term protein restricted diets on brain function remains unknown. While psychiatric illness is very common in adult PKU populations, very little data exist to guide clinicians on optimal treatment. The advent of new treatments that do not require restrictive dietary management, such as the enzyme therapy Pegvaliase, holds the promise of allowing patients a relatively normal diet alongside optimized mental health and cognitive functioning.
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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.