Genet Med. 2014 Jan 2. doi: 10.1038/gim.2013.179. [Epub ahead of print]
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency.
Singh RH1, Rohr F2, Frazier D3, Cunningham A4, Mofidi S5, Ogata B6, Splett PL7, Moseley K8, Huntington K9, Acosta PB10, Vockley J11, Van Calcar SC12.
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.Genet Med advance online publication 2 January 2014Genetics in Medicine (2014); doi:10.1038/gim.2013.179.
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