ArticleJournal of neurology2024
Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.
Article in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01619722 (Study of a National Cohort of Adult Patients With Phenylketonuria), which is not on this map. Cited by 2 papers.
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.
Study of a National Cohort of Adult Patients With Phenylketonuria
Who cites it
2 citing papers in PubMed.
- Effects of a Prolonged-Release Protein Substitute on 24-h Phenylalanine and Tyrosine Profiles in Phenylketonuria: A Randomized Crossover Study.Nutrients · 2026Trial
- 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
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors.
Funding
Abstract
BACKGROUND AND
objectiveAdult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).
methodsParticipants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%). Cognitive assessments: tests included the Wechsler Adult Intelligence Scale-IV, California Verbal Learning Test-II, Trail Making Test, and verbal fluency tests. Biochemical data: plasma Phe was measured concurrently with cognitive assessments.
resultsEpisodic memory: cPKU patients had lower performance in immediate recall compared to mPKU patients. There was a negative correlation between Phe levels and immediate recall indices, but no correlation with delayed memory. Processing speed: cPKU patients performed worse than mPKU patients in processing speed tests. Negative correlations were observed between Phe levels and processing speed measures, with more pronounced effects in cPKU patients. Executive functioning: No differences were found between cPKU and mPKU patients on executive functioning tests. No correlation was found between executive function and Phe levels. Working memory: cPKU patients had poorer working memory performance compared to mPKU patients, though no correlation was found between working memory performance and Phe levels.
conclusionsThe study reveals neurocognitive deficits in adults with PKU, particularly in episodic memory and processing speed. Higher plasma Phe levels are associated with poorer performance in these areas, especially in cPKU patients. Working memory and executive functioning did not show significant correlations with Phe levels.
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