Filippo Martinelli

Elucidating a potential role of the infant gut microbiome on L-tyrosine bioavailability in phenylketonuria using whole-body metabolic modelling

Phenylketonuria (PKU) is an inherited metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency, leading to elevated L-phenylalanine and severe neurological damage if untreated. While phenylalanine-based biomarkers are diagnostic and phenylalanine levels correlate w...