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PKU Clinical Program
For appointments call Vicki Frasher or Caitlin Haberfield at 206-598-1800
Core Function: Clinical Services, Technical Assistance and Outreach Training
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 can result in damage to the brain and mental retardation.
Untreated PKU can cause mental retardation. Fortunately, if a child is identified by Newborn Screening and diagnosed in early infancy and the infant receives appropriate treatment normal physical and cognitive development can be expected. The treatment of PKU requires lifelong management of phe level, 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 team 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, and by virtue of this clinic’s group format, parents and children develop 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.
More Information
PKU
Clinic Website
For a CHDD Outlook article about the PKU
Clinic (Vol. 14 #3), click here. |
