PKU dietary handbook to accompany PKU guidelines

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or...

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Veröffentlicht in:Orphanet journal of rare diseases 2020-06, Vol.15 (1), p.171-171, Article 171
Hauptverfasser: 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, Romani, C, Trefz, F, van Spronsen, F J
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Sprache:eng
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Zusammenfassung:Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. 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. This handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-020-01391-y