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PEDIATRICS Vol. 104 No. 6 December 1999, p. e67

ELECTRONIC ARTICLE:
Development of Guidelines for Treatment of Children With Phenylketonuria: Report of a Meeting at the National Institute of Child Health and Human Development Held August 15, 1995, National Institutes of Health, Bethesda, Maryland

Received Oct 5, 1998; accepted Jul 2, 1999.

Margretta Reed Seashore*, Rebecca WappnerDagger , Sechin Cho§, and Felix de la Cruzparallel

From the * Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, Connecticut; Dagger  Riley Hospital for Children, Section of Pediatric Metabolism/Genetics, Indianapolis, Indiana; § Wesley Medical Center, Wichita, Kansas; and the parallel  Mental Retardation Program, National Institutes of Health, National Institute of Child Health and Human Development, Bethesda, Maryland.

Objective.  To convene a small group of experts in diagnosis and management of PKU to discuss the following issues: the Subject Review of PKU management being performed by the American Academy of Pediatrics (AAP) Committee on Genetics (COG), the published British guidelines on PKU management, and the feasibility, suitability, and mechanism of developing PKU management guidelines for the United States.

Methods.  A 1-day meeting was held at the National Institutes of Health under the auspices of National Institute of Child Health and Human Development, convening experts in PKU diagnosis and management and members of the AAP/COG.

Results.  The group reviewed the published reports of outcomes of treatment of PKU and the British guidelines that were developed based on those data. It also reviewed the results of surveys of directors of clinics that manage PKU, parents of children with PKU, and young adults with PKU.

Conclusion.  The group supported the efforts of the AAP/COG to perform this review of PKU management. The group concluded that significant issues need to be resolved to provide sufficient information to establish US guidelines for PKU management. The establishment of such guidelines is an important next step in PKU management in the United States.  Key words:  phenylketonuria, treatment, guidelines, American Academy of Pediatrics.




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