Phenylketonuria (PKU) Clinic

There are several ways that the PKU clinic serves individuals and families.

Group clinics are offered monthly for infants and children up to 6 years of age and quarterly for school-age children and adolescents. Group clinics generally run from 9 to 11 am and 1 to 3 pm. The following occurs at each group clinic:

• Medical assessment. Children are weighed and measured to ensure that they are growing well. Children are examined by a developmental pediatrician.
• Nutrition assessment. Families meet with a nutritionist to discuss food and formula intake and review their child’s food record. This food record helps the nutritionist and the families to monitor phenylalanine (phe) intake and to understand how serum phe levels respond to dietary intake.
• Nutrition education. Children complete a nutrition education activity. These activities help participants to learn the skills necessary for PKU management and provide an opportunity to interact with peers who make similar food choices. Parents participate in a facilitated group to discuss issues related to raising a child with PKU. This support group helps families to problem solve and provides an opportunity to discuss on-going issues surrounding PKU management and is also an efficient way to keep families up-to-date on developments in PKU management, including research and products.

Individual appointments are offered to adults and to individuals who would prefer to meet privately. These appointments are generally 45 minutes in length.

Phone calls help families interpret blood levels and make adjustments to food and formula patterns. Families are encouraged to contact clinic staff on non-clinic days with questions about PKU and diet.

Developmental testing is offered to all children in the PKU Clinic. Children are first tested at around 3 years of age. They are re-tested approximately every three years into adulthood. For the appointment, children and their families meet individually with a psychologist at the PKU Clinic.

Other events are held including periodic meetings with all age groups to provide opportunities for families to meet other children and adults with PKU. “PKU Science Night” provides families and individuals with information about the latest research.

• Billing and Insurance:  Talk with your health insurance company about what services they cover, what co-pays you will need to pay, and whether you need authorization before your clinic visit.
• MyChart is the confidential medical record system used for IHDD Specialty Clinics. You can view upcoming appointments, lab results, and other visit information online. Parents or guardians of children may sign up for MyChart access to their children’s online health records. You can contact your child’s clinic for more information, or sign up in person when you check in for your child’s appointment.
• Interpreter Services: Specially trained medical interpreters are available for patients or family members who do not speak English. Be sure to request an interpreter, if needed, when you contact our clinic. Let us know which language you prefer to use.

Link to additional PKU information.