Phenylketonuria: current dietary treatment practices in the United States and Canada

Abstract

Objective: A survey of treatment centers for phenylketonuria (PKU) in the United States and Canada was undertaken regarding current practices of dietary treatment of PKU.

Methods: A total of 111 centers, who follow more than 6,950 patients with PKU responded to the survey.

Results: The majority of the centers, 87%, favor life-long dietary control of phenylalanine intake. The survey found lack of uniformity regarding acceptable range of blood phenylalanine levels. The frequency of clinic visits varied and became less frequent as patients got older. Although most of the clinics recommend diet for life, only one-third of the clinics follow patients beyond the age of 18 years, therefore, it is unclear who manages these patients beyond that age. The survey also showed a high number of families with children who were reported for medical neglect (3.0% compared to < 0.06% in the general population). Because of dietary noncompliance, 1% of the children were removed from the home.

Discussion: The survey points to the common treatment goal of diet for life for patients with PKU and underscores the need for uniform guidelines for achieving this goal.