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Phenylketonuria (PKU) is a genetic disorder that affects the body’s ability to break down an amino acid called phenylalanine. Individuals with PKU produce an enzyme called phenylalanine hydroxylase insufficiently or not at all, leading to a buildup of phenylalanine in the blood. If left untreated, this buildup can cause intellectual disabilities, behavioral problems, and other serious health issues. Nursing School: Obstetrics and Newborn Mnemonics PKU is typically diagnosed at birth through newborn screening tests.