Neurocognitive Surveillance in Children With Phenylketonuria: From Phenylalanine Control to Everyday Function
DOI:
https://doi.org/10.48047/3b242j05Keywords:
phenylketonuria; neurocognition; executive function; phenylalanine; pediatric metabolismAbstract
Background: Early-treated phenylketonuria (PKU) prevents severe intellectual disability, but subtle neurocognitive and psychosocial difficulties can persist. Aim: To review neurocognitive surveillance in children with PKU and its relation to longitudinal metabolic control. Methods: Narrative review of peer-reviewed literature and current guidance. Results: The most consistently vulnerable domains are executive function
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References
van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12:162.
Smith WE, Berry SA, et al. A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics for the diagnosis andmanagement of phenylalanine hydroxylase deficiency. Genet Med. 2025;27(1):101303.
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