title: Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
abstract: The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regime is complex, costly, and often difficult to maintain for the long term. Improvements and refinements in the diet for phenylalanine hydroxylase deficiency have been made over the years, and adjunctive therapies have proven to be successful for certain patients. Yet evidence-based guidelines for managing phenylalanine hydroxylase deficiency, optimizing outcomes, and addressing all available therapies are lacking. Thus, recommendations for nutrition management were developed using evidence from peer-reviewed publications, gray literature, and consensus surveys. The areas investigated included choice of appropriate medical foods, integration of adjunctive therapies, treatment during pregnancy, monitoring of nutritional and clinical markers, prevention of nutrient deficiencies, providing of access to care, and compliance strategies. This process has not only provided assessment and refinement of current nutrition management and monitoring recommendations but also charted a direction for future studies. This document serves as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment of phenylalanine hydroxylase deficiency.
authors.affiliation: Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
authors.forename: Rani H
authors.initials: RH
authors.lastname: Singh
authors.affiliation: Division of Genetics and Metabolism, Boston Children's Hospital, Boston, Massachusetts, USA.
authors.forename: Fran
authors.initials: F
authors.lastname: Rohr
authors.affiliation: Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
authors.forename: Dianne
authors.initials: D
authors.lastname: Frazier
authors.affiliation: Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Cunningham
authors.affiliation: Inherited Metabolic Disease Center, Maria Fareri Children's Hospital, Westchester Medical Center, New York Medical College, Valhalla, New York, USA.
authors.forename: Shideh
authors.initials: S
authors.lastname: Mofidi
authors.affiliation: Department of Pediatrics, University of Washington, Seattle, Washington, USA.
authors.forename: Beth
authors.initials: B
authors.lastname: Ogata
authors.affiliation: Splett & Associates, Stanchfield, Minnesota, USA.
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Splett
authors.affiliation: Department of Pediatrics, University of Southern California Medical Center, Los Angeles, California, USA.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Moseley
authors.affiliation: Metabolic Clinic, Institute for Development and Disability, Oregon Health Science University, Portland, Oregon, USA.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Huntington
authors.affiliation: Private practice, Atlanta, Georgia, USA.
authors.forename: Phyllis B
authors.initials: PB
authors.lastname: Acosta
authors.affiliation: 1] Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA [2] Department of Human Genetics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
authors.forename: Jerry
authors.initials: J
authors.lastname: Vockley
authors.affiliation: Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.
authors.forename: Sandra C
authors.initials: SC
authors.lastname: Van Calcar
mesh_terms: D019317:Evidence-Based Medicine; D005260:Female; D006801:Humans; D010349:Patient Compliance; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000178:diet therapy* / Q000235:genetics / Q000517:prevention & control*; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D014443:Tyrosine / Q000097:blood
chemical_list: D014443:Tyrosine; D010649:Phenylalanine