Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review

L. Paermentiera Reference Center for Inborn Errors of Metabolism, Marseille University Children’s Hospital, Marseille, France;b Neuro-Metabolism Department, Marseille University Children’s Hospital, Marseille, France;c Psychology Laboratory, University of Angers, Angers, FranceCorrespondence[email protected]

https://orcid.org/0000-0002-0229-2014 View further author information

A. Canoa Reference Center for Inborn Errors of Metabolism, Marseille University Children’s Hospital, Marseille, France;b Neuro-Metabolism Department, Marseille University Children’s Hospital, Marseille, FranceView further author information

B. Chabrola Reference Center for Inborn Errors of Metabolism, Marseille University Children’s Hospital, Marseille, France;b Neuro-Metabolism Department, Marseille University Children’s Hospital, Marseille, FranceView further author information

A. Royc Psychology Laboratory, University of Angers, Angers, France;d Neurofibromatosis Clinic and Reference Center for Learning Disabilities, Nantes University Hospital, Nantes, FranceView further author information

ABSTRACT

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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This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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