PKU dietary handbook to accompany PKU guidelines


Background: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Main body: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment. Conclusion: This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.

Publication DOI:
Divisions: College of Health & Life Sciences > School of Psychology
College of Health & Life Sciences > Clinical and Systems Neuroscience
College of Health & Life Sciences > School of Optometry > Vision, Hearing and Language
College of Health & Life Sciences
Additional Information: © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Uncontrolled Keywords: Diet,Guidelines,Phenylketonuria,PKU,Recommendations,Treatment,Genetics(clinical),Pharmacology (medical)
Publication ISSN: 1750-1172
Full Text Link:
Related URLs: http://www.scop ... tnerID=8YFLogxK (Scopus URL) ... 023-020-01391-y (Publisher URL)
PURE Output Type: Review article
Published Date: 2020-06-30
Accepted Date: 2020-05-04
Authors: MacDonald, A.
Van Wegberg, A. M.J.
Ahring, K.
Beblo, S.
Bélanger-Quintana, A.
Burlina, A.
Campistol, J.
Coşkun, T.
Feillet, F.
Giżewska, M.
Huijbregts, S. C.
Leuzzi, V.
Maillot, F.
Muntau, A. C.
Rocha, J. C.
Rocha, J. C.
Romani, C. (ORCID Profile 0000-0002-5693-4131)
Trefz, F.
Van Spronsen, F. J.



Version: Published Version

License: Creative Commons Attribution

| Preview

Export / Share Citation


Additional statistics for this record