Caring for children with phenylketonuria.

OBJECTIVE To provide an overview of the diagnosis and management of phenylketonuria (PKU) in childhood with an emphasis on aspects relevant to family physicians providing ongoing care. SOURCES OF INFORMATION The author's experience as the clinic physician in a regional pediatric PKU clinic is supplemented with references providing evidence for key points. MAIN MESSAGE While metabolic clinics typically provide guidance regarding the specific management of PKU, the family doctor has an essential role in providing ongoing medical care. CONCLUSION Children and families have much to gain from strong relationships with family doctors, and family doctors can confidently provide care with awareness of the very few potential special needs of patients with PKU.