ArticleNeuropsychology2017
Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.
Article in Neuropsychology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- A systematic review of cognitive functioning in early treated adults with phenylketonuria.Orphanet journal of rare diseases · 2018Pooled it
- 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
- Breaking Barriers: Stakeholder Insights into Physical Activity, Exercise, and Dietary Behaviours Among Individuals with Phenylketonuria (PKU).Healthcare (Basel, Switzerland) · 2026Article
- The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.Nutrients · 2026Review
- Leveraging Cognitive and Speech Ecological Momentary Assessment in Individuals With Phenylketonuria: Development and Usability Study of Cognitive Fluctuations in a Rare Disease Population.JMIR formative research · 2025Article
- Our lives with PKU: German patient voices - "Nothing about us without us".Molecular genetics and metabolism reports · 2025Article
- Executive Functions and Long-Term Metabolic Control in Adults with Phenylketonuria (PKU).Metabolites · 2025Article
- Lessons learned from 5 years of pegvaliase in US clinics: A case series.Molecular genetics and metabolism reports · 2025Article
- Phenylketonuria as an Adherence Disease.Patient preference and adherence · 2025Review
- 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
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
- Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.Arquivos de neuro-psiquiatria · 2023Review
- Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients.Behavioural neurology · 2023Article
- Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria.Journal of inherited metabolic disease · 2022Article
- Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.American journal of medical genetics. Part A · 2022Article
- Looking back at the neonatal period in early-treated phenylketonuric patients.Pediatric research · 2022Article
- Gene expression profiles in the brain of phenylketonuria mouse model reversed by the low phenylalanine diet therapy.Metabolic brain disease · 2021Article
- Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.Nutrients · 2021Observational
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePhenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature.
methodWe tested 37 AwPKU with an unprecedented number of tasks (N = 28) and measures (N = 44) and compared results with 30 controls matched for age and education.
resultsWe found (a) group impairments, particularly in tasks tapping speed of processing and complex executive functions; (b) high variability across participants, with a sizable number of AwPKU with completely normal performance (about 38%); (c) but also a sizable number of participants who were clearly impaired (about 24%); and (d) good performance in tasks tapping verbal learning, verbal memory and orthographic processing, indicating no generalized learning impairment.
conclusionOur results indicate good outcomes, but also that deficits are still present with current treatment policies. (PsycINFO Database Record
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