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.
PKU dietary handbook to accompany PKU guidelines / Macdonald, A.; Van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Rocha, J. C.; Romani, C.; Trefz, F.; Van Spronsen, F. J.. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 15:1(2020), p. 171. [10.1186/s13023-020-01391-y]
PKU dietary handbook to accompany PKU guidelines
Leuzzi V.;Romani C.;
2020
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
