Collaboration Details

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Title of Collaborative Activity:

Phenylketonuria (PKU) and Pregnancy

Description of Collaborative Activity:

Phenylketonuria (PKU) is a disorder of metabolism that can cause intellectual and developmental disabilities (IDD) if not treated. In PKU, the body cannot process the amino acid, phenylalanine (Phe), a component of the proteins found in foods. If the Phe level gets too high, the brain can become damaged. For nearly 50 years, newborn screening programs have successfully identified infants with PKU within days of birth, allowing treatment via dietary protein restriction to begin almost immediately, thereby preventing IDD. In October 2000, the NIH published a Consensus Development Conference Statement on the screening and management of PKU. Since then, new treatments and medications 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 the 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 presented their findings during this 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. This conference will consider the state of the science, recent research findings, current treatments, and future research needs related to PKU.

Type of Collaborative Activity:

Meeting/ Workshop

Year the Collaborative Activity Originated:


NIH Participating Institutes/Centers/Office of the Director:


HHS Agency Collaborators on this Activity: