Article
Variant-dependent pharmacological rescue of phenylalanine hydroxylase supports a precision therapeutic strategy for phenylketonuria.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jun 2026
Conde-Giménez María, Salillas Sandra, Galiana-Cameo María, Martínez-Oliván Juan E, Mahía Alejandro, Ledesma Manuel, Galano-Frutos Juan José, Maity Ritwik, Velázquez-Campoy Adrián, Díaz-de-Villegas María D, Hurtado-Guerrero Ramón, Sancho Javier
Abstract excerpt
Phenylketonuria (PKU) is an inherited metabolic disorder caused by pathogenic variants in phenylalanine hydroxylase (PAH), leading to toxic phenylalanine accumulation and severe neurological complications if untreated. Current pharmacological treatment relies on tetrahydrobiopterin (BH4), which benefits only a subset of patients, highlighting a major unmet need for alternative therapies. Here, we combined...
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