Litcius/Paper detail

PKU dietary handbook to accompany PKU guidelines

Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, Josep M. Campistol, Turgay Coşkun, François Feillet, Maria Giżewska, Stephan C. J. Huijbregts, Vincenzo Leuzzi, F. Maillot, Ania C. Muntau, Júlio César Rocha, Cristina Romani, Friedrich K. Trefz, Francjan J. van Spronsen

2020Orphanet Journal of Rare Diseases229 citationsDOIOpen Access PDF

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.

Topics & Concepts

Phenylalanine hydroxylaseInborn error of metabolismPhenylalanineMedicineHuman geneticsPhenylketonuriasTyrosineExpert opinionPediatricsDietary therapyEndocrinologyIntensive care medicineInternal medicineGeneticsBiochemistryChemistryBiologyAmino acidGeneMetabolism and Genetic DisordersGenomics and Rare DiseasesNutrition, Genetics, and Disease