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Contact: Vicki Frasher (206-598-1800)
Core Function: Clinical Services
Program: Genetics 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 adults and children with PKU and their families. Phenylketonuria is a genetic disorder in which an individual 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 and, for some individuals, the use of medication. 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 in order to maintain safe blood phe levels.
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 and 200 adults each year to prevent adverse consequences of this disorder. In addition to traditional clinic visits, the program offers regular group activities. Focus is not only on medical and dietary health, but independent thinking and self-management skills facilitated by educational curricula. In addition, this format provides an opportunity for families and children to develop a strong support network. As the children near adulthood they can participate in the clinic’s Adolescent Transition Curriculum, designed to prepare them to independently manage their PKU management.
Link to the PKU Clinic page on UW-CTU.org.
