PKU dietary handbook to accompany PKU guidelines.
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ABSTRACT:
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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