TY - JOUR
T1 - Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
AU - Singh, Rani H.
AU - Rohr, Fran
AU - Frazier, Dianne
AU - Cunningham, Amy
AU - Mofidi, Shideh
AU - Ogata, Beth
AU - Splett, Patricia L.
AU - Moseley, Kathryn
AU - Huntington, Kathleen
AU - Acosta, Phyllis B.
AU - Vockley, Jerry
AU - Van Calcar, Sandra C.
PY - 2014/2
Y1 - 2014/2
N2 - 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.
AB - 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.
KW - medical food
KW - nutrition management of PAH deficiency
KW - nutrition recommendations
KW - phenylalanine hydroxylase deficiency
KW - phenylketonuria
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U2 - 10.1038/gim.2013.179
DO - 10.1038/gim.2013.179
M3 - Review article
C2 - 24385075
AN - SCOPUS:84898470326
SN - 1098-3600
VL - 16
SP - 121
EP - 131
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 2
ER -