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.
