PKU Clinical Program

The Phenylketonuria (PKU) Clinic provides diagnosis, assessment, medical nutrition therapy, genetic counseling, and consultation for ongoing dietary management and health supervision, as well as evaluation of treatment outcomes to all children with PKU and their families. Phenylketonuria is a genetic disorder in which the child is born without the ability to break down the amino acid phenylalanine (phe). This causes higher than normal levels of phe in the blood which results in damage to the brain and intellectual disability if left untreated. Fortunately, if a child is identified by Newborn Screening, diagnosed in early infancy, and receives appropriate treatment, normal physical and cognitive development can be expected. The treatment of PKU requires lifelong management of phe levels regulated through the client's diet. Clinicians at the PKU clinic work with families and clients to ensure that the child is receiving adequate nutrients for normal development while limiting intake of foods high in phe.

The PKU Clinic is comprised of a team of trained health care professionals that represent multiple disciplines. Long-term interdisciplinary planning and follow-up services are provided to more than 100 children each year to prevent adverse consequences of this disorder. Clinics are held monthly and have a group format. Patients are organized into sub-clinics by age, a group format which lends itself to parents and children developing a strong support network. Focus is not only on medical and dietary health, but independent thinking and self-management skills facilitated by educational curricula in the clinic. As the children near adulthood they are enrolled in the clinic's Adolescent Transition Curriculum, designed to prepare them for PKU management and life management in the Adult PKU Program.

Phone: 206-598-1800