Researchers develop gene editing approaches for phenylketonuria treatment

Phenylketonuria (PKU) is a rare newborn genetic disease that impacts between 1 in 10,000 to 1 in 20,000 people, depending on the individuals’ genetic ancestry. PKU causes an amino acid—called phenylalanine (Phe)—to build up in the bloodstream. Uncontrolled PKU can lead to intellectual disability, psychiatric issues, and seizures. While current therapies can partially improve outcomes, they require meticulous, lifelong compliance that is very difficult for most patients.