Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

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

doi:10.1038/gim.2013.179

Public

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Published in Genetics in Medicine • Jan 2, 2014

Authors:

Rani H. Singh

Fran Rohr

Dianne M. Frazier

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 main...

Subject

Phenylalanine hydroxylase

Medicine

Guideline

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