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- 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, and F J van Spronsen.
- Dietetic Department, Birmingham Children's Hospital, Birmingham, UK.
- Orphanet J Rare Dis. 2020 Jun 30; 15 (1): 171.
BackgroundPhenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.Main BodyIn 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.ConclusionThis handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.
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