ArticleNeuropsychology2017
The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.
Article in Neuropsychology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
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Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 113 citations in OpenAlex.
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- A systematic review of cognitive functioning in early treated adults with phenylketonuria.Orphanet journal of rare diseases · 2018Pooled 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
- Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria.JAMA network open · 2026Article
- Global Trends in Phenylketonuria Treatment Research, 2000-2025: Bibliometric Analysis.Online journal of public health informatics · 2026Article
- Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team.Orphanet journal of rare diseases · 2026Article
- Exploring subthreshold functional network alterations in women with phenylketonuria by higher criticism.BMC research notes · 2026Article
- Review
- Synthetic closed-loop gene circuit for phenylalanine regulation.Nucleic acids research · 2025Article
- Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria.Orphanet journal of rare diseases · 2025Article
- GluN2B suppression restores phenylalanine-induced neuroplasticity and cognition impairments in a mouse model of phenylketonuria.The Journal of clinical investigation · 2025Article
- A Novel Combined Mung Bean and Mulberry Powder: Combination Index and Shelf Life of Total Phenolic, Anthocyanin, and GABA Contents and Neuroprotective Activity.Foods (Basel, Switzerland) · 2025Article
- Lessons learned from 5 years of pegvaliase in US clinics: A case series.Molecular genetics and metabolism reports · 2025Article
- Alterations in gut microbiota and plasma metabolites: a multi-omics study of mild cognitive impairment in Parkinson's disease.Frontiers in neuroscience · 2025Article
- Impact of gut probiotic metabolites on phenylketonuria.Frontiers in cellular and infection microbiology · 2025Review
- Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.Journal of neurology · 2024Article
- Cognition and wellbeing in middle-aged early treated people with phenylketonuria: Preliminary results and methodological lessons.Molecular genetics and metabolism reports · 2024Article
- Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).Molecular genetics and metabolism reports · 2024Review
- Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels.International journal of environmental research and public health · 2024Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePhenylketonuria (PKU) is due to an inability to metabolize the amino acid phenylalanine (Phe), leading to its accumulation in the brain. Phe levels can be controlled following a protein-free diet, but cognitive impairments are still present. A number of questions remain to be answered related to which type of metabolic control is important, the age when it is important, the cognitive functions which are most affected and, the best tests to use to monitor cognitive health.
methodWe investigated the impact of metabolic control at different ages on cognitive performance in 37 early treated adults with PKU.
results(a) Phe variation was as associated to performance as average Phe showing that stable dietary control is as important as strict control; (b) For some tasks, current and adult Phe were stronger predictors of performance than childhood or adolescent Phe, showing the importance of a strict diet even in adulthood; and (c) The relationship between performance and Phe levels varied depending on time and cognitive domain. For some functions (sustained attention, visuomotor coordination), Phe at the time of testing was the best predictor. While for other functions (visual attention, executive functions) there was a diminishing or stable relationship across time.
conclusionResults show the importance of selecting the right tasks to monitor outcomes across ages, but also that the impact of bio-chemical disruptions is different for different functions, at different ages. We show how inherited metabolic diseases offer us a unique vantage point to inform our understanding of brain development and functioning. (PsycINFO Database Record
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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.