Rani H Singh1, Amy C Cunningham2, Shideh Mofidi3, Teresa D Douglas4, Dianne M Frazier5, Debra Geary Hook6, Laura Jeffers7, Helen McCune8, Kathryn D Moseley9, Beth Ogata10, Surekha Pendyal11, Jill Skrabal12, Patricia L Splett13, Adrya Stembridge14, Ann Wessel15, Frances Rohr16. 1. Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, Atlanta, GA 30033, USA; Nutrition Health Sciences Program, Graduate Division of Biological and Biomedical Sciences, Emory University School of Arts and Sciences, Atlanta, GA, USA. Electronic address: rsingh@emory.edu. 2. Hayward Genetics Center, Tulane University School of Medicine, 1430 Tulane Ave, New Orleans, LA 70112, USA. Electronic address: acunnin@tulane.edu. 3. Inherited Metabolic Disease Center, Maria Fareri Childrens Hospital, Westchester Medical Center, New York Medical College, Valhalla, New York, USA. Electronic address: shideh.mofidi@hotmail.com. 4. Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, Atlanta, GA 30033, USA. Electronic address: teresadd@alum.emory.edu. 5. Division of Genetics and Metabolism, University of North Carolina School of Medicine, 1100 Manning Drive, Chapel Hill, NC 27599, USA. Electronic address: Dianne_frazier@med.unc.edu. 6. University of California, Davis, USA. Electronic address: debrahook@sbcglobal.net. 7. Cleveland Clinic, Center for Human Nutrition, 9500 Euclid Ave, Cleveland, OH 44195, USA. Electronic address: Jefferl2@ccf.org. 8. Pediatric Genetics and Metabolism, University of Florida, 1600 SW Archer Rd, Gainesville, FL 32607, USA. Electronic address: mccunh@shands.ufl.edu. 9. Genetics Division, USC/Keck School of Medicine, 1801 Marengo St. Rm. 1G-24, Los Angeles, CA 90033, USA. Electronic address: kmoseley@usc.edu. 10. University of Washington, Department of Pediatrics, UW-CHDD, Box 357920, Seattle, WA 98195, USA. Electronic address: bogata@uw.edu. 11. Division of Genetics and Metabolism, University of North Carolina School of Medicine, 1100 Manning Drive, Chapel Hill, NC 27599, USA. Electronic address: surekha_pendyal@med.unc.edu. 12. Department of Medical Genetics, University of Nebraska Medical Center/Children's Hospital and Medical Center, 981200 Nebraska Medical Center, Omaha, NE. 68198-1200, USA. Electronic address: Jskrabal@unmc.edu. 13. Evaluation Consultant Splett & Associates, LLC, 399 Badger Blvd W., Stanchfield, MN 55080, USA. Electronic address: splet004@umn.edu. 14. Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, Atlanta, GA 30033, USA. Electronic address: astembr@emory.edu. 15. Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA. Electronic address: ann.wessel@childrens.harvard.edu. 16. Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA 02115, USA. Electronic address: frances.rohr@childrens.harvard.edu.
Abstract
BACKGROUND: In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency were published as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment of phenylketonuria (PKU). These were developed primarily from a summary of findings from the PKU scientific review conference sponsored by the National Institutes of Health and Agency for Healthcare Research & Quality along with additional systematic literature review. Since that time, the Genetic Metabolic Dietitians International and the Southeast Regional Newborn Screening and Genetics Collaborative have partnered to create a web-based technology platform for the update and development of nutrition management guidelines for inherited metabolic disorders. OBJECTIVE: The purpose of this PKU guideline is to establish harmonization in treatment and monitoring, to guide the integration of nutrition therapy in the medical management of PKU, and to improve outcomes (nutritional, cognitive, and developmental) for individuals with PKU in all life stages while reducing associated medical, educational, and social costs. METHODS: Six research questions critical to PKU nutrition management were formulated to support guideline development: Review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature, along with expert Delphi survey feedback, nominal group process, and external review from metabolic physicians and dietitians were utilized for development of recommendations relevant to each question. Recommendations address nutrient intake, including updated protein requirements, optimal blood phenylalanine concentrations, nutrition interventions, monitoring parameters specific to life stages, adjunct therapies, and pregnancy and lactation. Recommendations were graded using a rigorous system derived from the Academy of Nutrition and Dietetics. RESULTS AND CONCLUSION: These guidelines, updated utilizing a thorough and systematic approach to literature analysis and national consensus process, are now easily accessible to the global community via the newly developed digital platform. For additional details on specific topics, readers are encouraged to review materials on the online portal: https://GMDI.org/.
BACKGROUND: In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency were published as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment of phenylketonuria (PKU). These were developed primarily from a summary of findings from the PKU scientific review conference sponsored by the National Institutes of Health and Agency for Healthcare Research & Quality along with additional systematic literature review. Since that time, the Genetic Metabolic Dietitians International and the Southeast Regional Newborn Screening and Genetics Collaborative have partnered to create a web-based technology platform for the update and development of nutrition management guidelines for inherited metabolic disorders. OBJECTIVE: The purpose of this PKU guideline is to establish harmonization in treatment and monitoring, to guide the integration of nutrition therapy in the medical management of PKU, and to improve outcomes (nutritional, cognitive, and developmental) for individuals with PKU in all life stages while reducing associated medical, educational, and social costs. METHODS: Six research questions critical to PKU nutrition management were formulated to support guideline development: Review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature, along with expert Delphi survey feedback, nominal group process, and external review from metabolic physicians and dietitians were utilized for development of recommendations relevant to each question. Recommendations address nutrient intake, including updated protein requirements, optimal blood phenylalanine concentrations, nutrition interventions, monitoring parameters specific to life stages, adjunct therapies, and pregnancy and lactation. Recommendations were graded using a rigorous system derived from the Academy of Nutrition and Dietetics. RESULTS AND CONCLUSION: These guidelines, updated utilizing a thorough and systematic approach to literature analysis and national consensus process, are now easily accessible to the global community via the newly developed digital platform. For additional details on specific topics, readers are encouraged to review materials on the online portal: https://GMDI.org/.
Authors: Bridget M Stroup; Denise M Ney; Sangita G Murali; Frances Rohr; Sally T Gleason; Sandra C van Calcar; Harvey L Levy Journal: J Nutr Metab Date: 2017-12-31
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