Program Description: Adult Phenylketonuria (PKU) Clinic
Phenylketonuria (PKU) is a rare inherited disorder that affects one in 12,000 children born in Canada. The treatment of PKU requires lifelong management of phenylalanine (phe) levels through diet. If left untreated, higher levels of phe can cause damage to the brain and intellectual disability.
The provincial PKU clinic, located at the Alvin Buckwold Child Development Program in Saskatoon, provides a family-centered, interdisciplinary service which includes diagnosis, assessment, nutrition management and genetic counseling. The core PKU team includes a physician, a nurse coordinator, a registered dietitian and genetic counselor. Where required or advised, access to social work support is also available.
Multi-Disciplinary Team: The care to clients provided by the physician is supported by a multi-disciplinary team who undertake the following roles:
Nurse Coordinator: Ensures the continuity of care through clinical triage coordination, waitlist management, and communication with the referring physician, the PKU physician and the PKU interdisciplinary team members.
Genetic Counselor: Educates clients and families about PKU including maternal PKU risks, the inheritance of PKU, the availability of genetic testing, as well as the reproductive and prenatal testing options. Genetic counseling is available both in Saskatoon and via telehealth for patients outside of Saskatoon.
Registered Dietitian: Assesses nutritional intake and requirements, develops and implements individualized nutritional care plan for clients, and adjusts care plans to help clients meet their nutritional needs while achieving controlled phe levels. The RD also provides education and counseling to clients and families to help carry out the specialized diet for each patient and assists the Nurse Coordinator with clinical triage. RD support is available in person at the clinic and via telephone, telehealth and occasional inter-provincial travel by the RD.