Adriana Pané, Marcos Carrasco-Serrano, Camila Milad, Pere Leyes, Pedro Juan Moreno-Lozano, Roser Ventura, José Cesar Milisenda, Francesc Josep García-García, Glòria Garrabou, Judit García-Villoria, Rosa Maria López-Galera, Antonia Ribes, Josep Maria Grau-Junyent, Maria de Talló Forga-Visa, Cristina Montserrat-Carbonell, On Behalf Of Pku Cat Consortium
Phenylketonuria (PKU) is the most frequent of the congenital errors of amino acid (AA) metabolism worldwide. It leads to the accumulation of the essential AA phenylalanine (Phe) and it is associated with severe neurological defects. The early diagnosis and treatment of this rare disease, achieved through newborn screening and low-Phe diet, has profoundly changed its clinical spectrum, resulting in normal cognitive development. We face the first generation of PKU patients perinatally diagnosed and treated who have reached adulthood, whose special needs must be addressed, including feeding through enteral nutrition (EN)...
December 1, 2023: Journal of Clinical Medicine