PKU dietary handbook to accompany PKU guidelines

A. MacDonald, A. M.J. Van Wegberg, K. Ahring, S. Beblo, A. Bélanger-Quintana, A. Burlina, J. Campistol, T. Coşkun, F. Feillet, M. Giżewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, J. C. Rocha, C. Romani, F. Trefz, F. J. Van Spronsen*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Article number171
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 30 Jun 2020

Bibliographical note

© 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.


  • Diet
  • Guidelines
  • Phenylketonuria
  • PKU
  • Recommendations
  • Treatment


Dive into the research topics of 'PKU dietary handbook to accompany PKU guidelines'. Together they form a unique fingerprint.

Cite this