Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.

Autor: Brachet M; Centre Mémoire de Ressources Et de Recherche, CHRU de Tours, Tours, France., Charrière S; Fédération d'Endocrinologie, Maladies Métaboliques, Diabète Et Nutrition, Hôpital Louis Pradel, Hospices Civils de Lyon, 69677, Bron Cedex, France.; Hospices Civils de Lyon, Centre de Référence Des Maladies Héréditaires du Métabolisme de Lyon, Groupement Hospitalier Est, 69677, Bron Cedex, France.; CarMen Laboratory, INSERM, INRAE, Université Claude Bernard Lyon 1, 69310, Pierre Bénite, France., Douillard C; Service d'Endocrinologie Et Des Maladies Métaboliques, Centre de Référence Des Maladies Héréditaires du Métabolisme, CHU de Lille, 59037, Lille, France., Feillet F; Centre de Référence Des Maladies Métaboliques, Service de Pédiatrie, CHRU de Nancy, INSERM 1256 NGERE, 54000, Nancy, France., Fouilhoux A; Hospices Civils de Lyon, Centre de Référence Des Maladies Héréditaires du Métabolisme de Lyon, Groupement Hospitalier Est, 69677, Bron Cedex, France., Astudillo L; Service de Médecine Interne, Service de Médecine Interne Clinique Saint-Exupery, CHU de Toulouse, Toulouse, France., Lavigne C; Service de Médecine Interne Et d'Immunologie Clinique, CHU d'Angers, 49100, Angers, France., Arnoux JB; Centre de Référence Des Maladies Métaboliques, Hôpital Necker-Enfants Malades, AP-HP, 75015, Paris, France., Odent S; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, Univ Rennes, IGDR Institut de Génétique Et Développement de Rennes, CNRS INSERM UMR 6290 URL 1305, Rennes, France., Gay C; Service de Pédiatrie, Centre de Compétence Des Maladies Héréditaires du Métabolisme, CHU de Saint-Étienne, Hôpital Nord, 40255, Saint-Étienne Cedex 2, France., Schiff M; Reference Center for Inborn Errors of Metabolism, Necker University Hospital, APHP and University of Paris Cité, Filière G2M, INSERM UMRS_1163, Institut Imagine Paris, MetabERN, Paris, France., Mazodier K; Centre de Référence Des Maladies Métaboliques, Service de Médecine Interne Et Immunologie Clinique, Hôpital de La Conception, AP-HM, 13005, Marseille, France., Kuster A; Service de Pédiatrie, CHU de Nantes, 44093, Nantes, France., Rigalleau V; Service d'Endocrinologie, Diabétologie, Nutrition, Hôpital Haut-Lévêque, CHU de Bordeaux, 33600, Pessac, France., Thauvin-Robinet C; Centre de Référence Déficiences Intellectuelles de Causes Rares, Centre de Génétique, Hôpital d'Enfants, Inserm-Université de Bourgogne, U1231 GAD, Génétique Des Anomalies du Développement, CHU Dijon Bourgogne, 21079, Dijon, France., Leguy-Seguin V; Service de Médecine Interne Et d'Immunologie Clinique, CHU de Dijon, 21079, Dijon, France., Gissot V; Centre d'investigation Clinique CIC 1415, INSERM, CHRU de Tours, Tours, France., Maillot F; Service de Médecine Interne, Centre de Référence Des Maladies Héréditaires du Métabolisme, UMR INSERM 1253 « iBraiN », Université de Tours, CHU de Tours, Tours, France. francois.maillot@univ-tours.fr.; Internal Medicine Department, University Hospital of Tours, 2 Bd Tonnellé, 37044, Tours Cedex, France. francois.maillot@univ-tours.fr.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2024 Dec 12; Vol. 272 (1), pp. 53. Date of Electronic Publication: 2024 Dec 12.
DOI: 10.1007/s00415-024-12840-0
Abstrakt: Background and Objective: Adult 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).
Methods: Participants: 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.
Results: Episodic 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.
Conclusions: The 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.
Competing Interests: Declarations. Conflicts of interest: On behalf of all authors, the corresponding author states that there is no conflict of interest. Ethical approval: The present work has been conducted in accordance with to the ethical standards on human experimentation of our institution and with the Helsinki declaration of 1975, revised in 2013.
(© 2024. Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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