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, C. Romani, F. Trefz, F. J. Van Spronsen

Research output: Contribution to journalReview articlepeer-review

47 Citations (Scopus)
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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


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


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