About This Condition
If untreated, high levels of phenylalanine can cause severe mental retardation, behavioral disturbances, and other brain and nerve problems. Fortunately, newborn screening programs now identify most cases of PKU in the United States and other countries. Early diagnosis and treatment is the key to reducing or preventing PKU-related conditions.2 Gene therapy is currently being researched as a possible cure.3,4 Research is also being conducted on methods to decrease levels of phenylalanine in the blood through the use of certain enzymes5 and amino acids.6
Other treatment consists of strict adherence to a diet low in phenylalanine, in order to prevent a buildup of phenylalanine in the body.