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Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review

L Paermentier1,2,3, A Cano1,2, B Chabrol1,2

  • 1Reference Center for Inborn Errors of Metabolism, Marseille University Children's Hospital, Marseille, France.

Developmental Neuropsychology
|January 3, 2023
PubMed

Moderate hyperphenylalaninemia (mHPA) is a hydroxylase deficiency corresponding to phenylalanine levels, at newborn screening, below 360 μmol/l. The neurological impact of mHPA is usually considered to be very low, but few studies have investigated the neuropsychological profile of mHPA patients.A systematic review of the neuropsychological aspects of mHPA was therefore conducted.The results showed a preservation of cognitive functions (intelligence, memory, visuoperception…). However, several indicators point to executive difficulties in this population. In regard to the important impact of executive functions in daily life, it is essential to conduct other studies in mHPA patients by proposing an integrative approach.

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