Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Rani H. Singh, Fran Rohr, Dianne Frazier, Amy Cunningham, Shideh Mofidi, Beth Ogata, Patricia L. Splett, Kathryn Moseley, Kathleen Huntington, Phyllis B. Acosta, Jerry Vockley, Sandra C. Van Calcar

Research output: Contribution to journalReview articlepeer-review

132 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)121-131
Number of pages11
JournalGenetics in Medicine
Issue number2
StatePublished - Feb 2014
Externally publishedYes


  • medical food
  • nutrition management of PAH deficiency
  • nutrition recommendations
  • phenylalanine hydroxylase deficiency
  • phenylketonuria

ASJC Scopus subject areas

  • Genetics(clinical)


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