{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:28:39Z","timestamp":1762003719536,"version":"3.40.5"},"reference-count":71,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,12,1]]},"abstract":"\n Objective.<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Methods.<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Results.<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Conclusion.<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Objective.<\/jats:title>\n The development of guidelines for phenylketonuria (PKU) management in the United Kingdom has resulted in much discussion in the community of parents and PKU clinics and parents have asked why the United States does not have such guidelines. The objective of this report is to discuss PKU management in the United States, the British guidelines on PKU management, and the feasibility, suitability, and mechanism of developing PKU management guidelines in the United States.<\/jats:p>\n <\/jats:sec>\n \n Methods.<\/jats:title>\n Members of the American Academy of Pediatrics (AAP) Committee on Genetics (COG) reviewed the literature and conducted surveys of parents of children with PKU, young adults with PKU, and directors of PKU clinics in the United States. A meeting was held at the National Institute of Child Health and Human Development to review the AAP\/COG efforts at reviewing the status of PKU management and guideline development in the United States.<\/jats:p>\n <\/jats:sec>\n \n Results.<\/jats:title>\n The British guidelines are more stringent than the PKU management practices in many parts of the United States. Evidence exists that stricter management improves developmental outcome. The parents who responded to the surveys indicated willingness to comply with more stringent dietary management if that would improve outcome. They also identified problems that make such management difficult. The clinic directors supported the timeliness of the review. Some had begun a trend toward more stringent control of blood phenylalanine concentrations, at least in the first 4 years of life.<\/jats:p>\n <\/jats:sec>\n \n Conclusion.<\/jats:title>\n The AAP Committee on Genetics will complete its subject review of the management of PKU. Guidelines for care of PKU in the United States probably would look quite similar to the existing guidelines in other countries. The parents surveyed supported more stringent PKU management, but information from a broader distribution of parents would provide a more representative view. The status of the US health care system creates problems for improved PKU management in the United States that do not exist in the countries already following stricter guidelines.<\/jats:p>\n <\/jats:sec>","DOI":"10.1542\/peds.104.6.e68","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:45:45Z","timestamp":1092440745000},"page":"e68-e68","source":"Crossref","is-referenced-by-count":48,"title":["Management of Phenylketonuria for Optimal Outcome: A Review of Guidelines for Phenylketonuria Management and a Report of Surveys of Parents, Patients, and Clinic Directors"],"prefix":"10.1542","volume":"104","author":[{"given":"Margretta Reed","family":"Seashore","sequence":"first","affiliation":[{"name":"From the Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, Connecticut; Riley Hospital for Children, Section of Pediatric Metabolism\/Genetics, Indianapolis, Indiana;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Wappner","sequence":"additional","affiliation":[{"name":"Riley Hospital for Children, Section of Pediatric Metabolism\/Genetics, Indianapolis, Indiana; Wesley Medical Center, Wichita, Kansas; the"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sechin","family":"Cho","sequence":"additional","affiliation":[{"name":"Wesley Medical Center, Wichita, Kansas; and the University of Washington, Seattle, Washington;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix","family":"de la Cruz","sequence":"additional","affiliation":[{"name":"Mental Retardation Program, National Institutes of Health, National Institute of Child Health and Human Development, Bethesda, Maryland. National PKU News, Seattle, Washington; and the"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Wappner","sequence":"additional","affiliation":[{"name":"From the Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, Connecticut; Riley Hospital for Children, Section of Pediatric Metabolism\/Genetics, Indianapolis, Indiana;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sechin","family":"Cho","sequence":"additional","affiliation":[{"name":"Riley Hospital for Children, Section of Pediatric Metabolism\/Genetics, Indianapolis, Indiana; Wesley Medical Center, Wichita, Kansas; the"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A.","family":"Kronmal","sequence":"additional","affiliation":[{"name":"Wesley Medical Center, Wichita, Kansas; and the University of Washington, Seattle, Washington;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Schuett","sequence":"additional","affiliation":[{"name":"Mental Retardation Program, National Institutes of Health, National Institute of Child Health and Human Development, Bethesda, Maryland. National PKU News, Seattle, Washington; and the"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margretta Reed","family":"Seashore","sequence":"additional","affiliation":[{"name":"Departments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, Connecticut."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[1999,12,1]]},"reference":[{"key":"2021121003091589600_B1"},{"key":"2021121003091589600_B2","first-page":"155","article-title":"Outcome of treatment in young adults with phenylketonuria detected by routine neonatal screening between 1964 and 1971.","volume":"87","author":"Beasley","year":"1994","journal-title":"Q J Med"},{"key":"2021121003091589600_B3","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1203\/00006450-199703000-00011","article-title":"Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and 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