PKU dietary handbook to accompany PKU guidelines.
Ontology highlight
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.
SUBMITTER: MacDonald A
PROVIDER: S-EPMC7329487 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Publications
PKU dietary handbook to accompany PKU guidelines.
MacDonald A A van Wegberg A M J AMJ Ahring K K Beblo S S Bélanger-Quintana A A Burlina A A Campistol J J Coşkun T T Feillet F F Giżewska M M Huijbregts S C SC Leuzzi V V Maillot F F Muntau A C AC Rocha J C JC Romani C C Trefz F F van Spronsen F J FJ
Orphanet journal of rare diseases 20200630 1
<h4>Background</h4>Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.<h4>Main body</h4>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 a ...[more]
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