Help Revisit the 2000 PKU Consensus Statement!

Phenylketonuria (PKU) is a disorder of amino acid metabolism in which lifelong dietary treatment prevents intellectual disability. Newborn screening programs have successfully identified infants with PKU within days of birth for almost 50 years. In October 2000, the National Institutes of Health (NIH) published a Consensus Development Conference Statement for screening and management of PKU. Since then, new treatments, including pharmacological, have emerged. To assist clinicians in making treatment decisions, NIH has revisited the 2000 guidelines. Five working groups, composed of 8–12 topical experts, public members, and federal stakeholders, were convened to explore an expanded body of literature and address important questions regarding treatment of PKU. The working groups were organized around the following topics:

  • Diet Control and Management
  • Pharmacologic Interventions
  • PKU and Pregnancy
  • Long-Term Outcomes and Management across the Lifespan
  • Molecular Testing, New Technologies, and Epidemiologic Considerations

These working groups will present their findings during the NIH Scientific Review Conference. In a parallel and collaborative effort, an Evidence-based Practice Center (EPC) of the Agency for Healthcare Research and Quality (AHRQ) has conducted an evidence-based review of the comparative effectiveness of treatment for PKU, including diet and sapropterin dihydrochloride. Together, the PKU Scientific Review Conference and the AHRQ EPC report will examine evidence on important issues related to management of PKU. Public input will be solicited and a final document will be published that will consider the state of the science, recent research findings, current treatments, the role of sapropterin, and future research needs for PKU.

Who should attend: This meeting is open to all. Clinicians and researchers involved in the care of persons with PKU, individuals with PKU and their families, advocacy organizations, governments, and interested industry representatives are encouraged to attend. There is no registration fee, but preregistration is required.

For special accommodations, please email Megan McNamee.

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