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.
Original language | English |
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Article number | 171 |
Journal | Orphanet Journal of Rare Diseases |
Volume | 15 |
Issue number | 1 |
DOIs | |
Publication status | Published - 30 Jun 2020 |
Keywords
- Diet
- Guidelines
- Phenylketonuria
- PKU
- Recommendations
- Treatment