Cognitive Functioning in Phenylketonuria: A Lifespan Perspective

Stephan Huijbregts, Cristina Romani

Research output: Contribution to journalReview articlepeer-review

Abstract

Phenylketonuria (PKU) is a hereditary metabolic disorder characterized by the inability to metabolize phenylalanine, leading to neurotoxic accumulation of phenylalanine and significant cognitive impairment. While extensive research has focused on the cognitive outcomes in middle childhood, adolescence, and early adulthood, there is a notable paucity of studies addressing the cognitive functioning of very young and older PKU patients. This review underscores the necessity for further research in these populations, particularly because of the importance of early cognitive development for later cognitive and behavioral functioning and because of the potential implications of PKU and metabolic control for age-related cognitive decline.
Original languageEnglish
Article number146
Number of pages23
JournalNutrients
Volume18
Issue number1
Early online date1 Jan 2026
DOIs
Publication statusE-pub ahead of print - 1 Jan 2026

Bibliographical note

© 2026 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license

Keywords

  • phenylketonuria
  • cognition
  • executive functioning
  • early childhood
  • aging
  • biomarkers
  • neurodevelopmental disorders
  • neurodegenerative diseases
  • Cognitive Dysfunction/etiology
  • Phenylalanine/blood
  • Humans
  • Cognition
  • Longevity
  • Phenylketonurias/psychology
  • Young Adult
  • Adolescent
  • Adult
  • Child

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