PKU dietary handbook to accompany PKU guidelines

Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y.

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.

Keywords: Diet; Guidelines; PKU; Phenylketonuria; Recommendations; Treatment.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Diet
  • Humans
  • Phenylalanine
  • Phenylalanine Hydroxylase*
  • Phenylketonurias*
  • Tyrosine

Substances

  • Tyrosine
  • Phenylalanine
  • Phenylalanine Hydroxylase