All Danish children with PKU are treated at the Kennedy Center. The national newborn screening program includes PKU and congenital hypothyroidism, and 13 other inborn errors of metabolism. When a positive screening test for PKU is found, the baby and family are referred to the Kennedy Center where the diagnosis is confirmed and a dietary treatment is started. The diet is in principle a low protein diet with amino acid supplement. A new treatment with BH4 is expected to start in 2009. Children, youngsters and adults, inclusive pregnant women, are checked at the clinic at regular intervals.
The Center for fragile X offers nation- wide counseling of families with the fragile X syndrome, as well as counseling of authorities, schools and day institutions in contact with patients The activities include advice on management, medical treatment (if relevant) and genetic counseling.
The Center for Rett syndrome offers multidisciplinary counseling and support of all Danish patients and families, and advice on management for local health care personnel and social authorities.