Phenylketonuria (PKU): screening and management.

OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of currently available data regarding screening for, and management of. phenylketonuria (PKU). PARTICIPANTS: A non-Federal, non-advocate, 14-member panel representing the fields of pediatrics, genetics, human development, public policy, nursing, molecular physiology, and including patient representatives. In addition, 19 experts in pediatrics, medical genetics, psychology, pediatric neurology, biochemical and molecular genetics, and gene therapy presented data to the panel and to a conference audience of more than 300. EVIDENCE: The literature was searched using MEDLINE and an extensive bibliography of references was provided to the panel. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. CONSENSUS PROCESS: The panel, answering predefined questions, developed their conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. The draft statement was made available on the World Wide Web immediately following its release at the conference and was updated with the panel's final revisions.
CONCLUSIONS: Genetic testing for PKU has been in place for almost 40 years and has been very successful in the prevention of severe mental retardation in thousands of children and adults. Metabolic control is necessary across the lifespan of individuals with PKU. A comprehensive, multidisciplinary, integrated system is required for the delivery of care to individuals with PKU. Greatly needed are consistency and coordination among screening, treatment, data collection, and patient support programs. There should be equal access to culturally sensitive, age-appropriate treatment programs. Ethically sound, specific policies for storage, ownership, and use in future studies of archived samples remaining from PKU testing should be established. Research into the pathophysiology of PKU and relationship to genetic, neural, and behavioral variation is strongly encouraged. Uniform policies need to be established to remove from the individual and the family financial barriers to the acquisition of medical foods and modified low-protein foods, as well as to provide access to support services required to maintain metabolic control in individuals with PKU. Research on nondietary alternatives to treatment of PKU is strongly encouraged. To achieve optimal statistical power, as well as cross-cultural applicability, it will be beneficial to use data acquired via national and international collaboration.