Abstract

This study examines the potential need for a phenylalanine-confined diet in young infants diagnosed with phenylalanine hydroxylase (PAH) deficiency, initially managed with sapropterin monotherapy. Evaluating the efficacy and safety of sapropterin as a standalone treatment, we aim to elucidate whether dietary restrictions are warranted in this population. Through a comprehensive analysis of clinical outcomes and metabolic parameters, including phenylalanine levels, we explore the viability of sapropterin monotherapy as an alternative or adjunct to dietary interventions in managing PAH deficiency during infancy. This investigation sheds light on optimizing therapeutic strategies for this vulnerable patient group.