Phenylketonuria (PKU) is a rare metabolic disorder detected through newborn screening, caused by a deficiency of the PAH enzyme, which leads to toxic levels of phenylalanine in the brain. Without early treatment, PKU can cause severe intellectual disability, but a strict phenylalanine-restricted diet can help prevent complications. This video is brought to you by NORD (National Organization for Rare Disorders) on Phenylketonuria. Read the full report here: #Phenylketonuria #NewbornScreening #MetabolicDisorders #Phenylalanine