Fiche publication
Date publication
décembre 2025
Journal
Molecular genetics and metabolism
Auteurs
Membres identifiés du Cancéropôle Est :
Pr THAUVIN-ROBINET Christel
Tous les auteurs :
Giret C, Charrière S, Feillet F, Fouilhoux A, Astudillo L, Lavigne C, Arnoux JB, Odent S, Gay C, Schiff M, Mazodier K, Kuster A, Rigalleau V, Thauvin C, Leguy-Seguin V, Lêvesque H, Sacaze E, Besson G, Thoreau B, Le Gouge A, Gissot V, Douillard C, Maillot F
Lien Pubmed
Résumé
Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the PAH gene leading to phenylalanine hydroxylase deficiency. This results in the accumulation of phenylalanine (Phe) in blood and brain, causing neurological and psychiatric impairments if untreated. Newborn screening (NBS) introduced in the 1960s enables early PKU diagnosis, allowing prompt dietary or sapropterin treatment. The long-term outcomes in adults with early-treated PKU, however, may include subtle neurocognitive deficits alongside somatic neurological and psychiatric complications, which remain incompletely characterized.
Mots clés
Adults, Anxiety, Depression, Neurological disorders, Phenylketonuria, Psychiatric disorders, Tremor
Référence
Mol Genet Metab. 2025 12 16;147(1):109706
