PKU dietary handbook to accompany PKU guidelines
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(2020) 15:171
REVIEW
Open Access
PKU dietary handbook to accompany PKU guidelines A. MacDonald1, A. M. J. van Wegberg2 , K. Ahring3, S. Beblo4, A. Bélanger-Quintana5, A. Burlina6, J. Campistol7, T. Coşkun8, F. Feillet9, M. Giżewska10, S. C. Huijbregts11, V. Leuzzi12, F. Maillot13, A. C. Muntau14, J. C. Rocha15, C. Romani16, F. Trefz17 and F. J. van Spronsen2*
Abstract 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. Keywords: Phenylketonuria , PKU , Diet , Treatment , Recommendations , Guidelines
Background Phenylketonuria (PKU) is an autosomal, recessive, genetic disorder. It is caused by a deficiency of the enzyme phenylalanine hydroxylase which normally converts phenylalanine to tyrosine. Deficiency of this enzyme leads to an increased production of phenylketone bodies (hence phenylketonuria) and accumulation of phenylalanine resulting in high phenylalanine levels in the blood and brain. A strict, lifelong low phenylalanine diet is the principle treatment in PKU. It may be the only treatment or used in combination with drug treatments. This diet manual describes the practical application of the European PKU guidelines [1]. It provides additional references supporting the practical recommendations as listed in the European PKU Guidelines [1].
Principles of dietary management The goals of dietary management are threefold:
* Correspondence: [email protected] 2 Division of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands Full list of author information is available at the end of the article
Foods avoided in a low phenylalanine diet In most people with PKU, the natural protein or dietary phenylalanine is restricted to 25% or less of a regular
Prevent accumulation of excessive phenylalanine in
the blood (and therefore the brain) by strict control of natural protein/phenylalanine intake. Replacement of natural protein that has been removed from the diet with safe or phenylalanine-free protein, called synthetic protein, amino acid mixture/supplement or protein substitute. All protein substitutes are phenylalanine-free or very low in phenylalanine. Attainment of normal growth and nutritional status. This is achieved by ensuring that the diet contains a balanced intake of all nutrients and energy. Vitamins and minerals supplements are either added to the protein substitute or given as a s
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