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June 30, 2020Orphanet Journal of Rare Diseases225 citationsOpen Access

PKU dietary handbook to accompany PKU guidelines

AMAnita MacDonaldAWAnnemiek M. J. van WegbergKAKirsten Ahring

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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.

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Cite This Study

MacDonald et al. (2020) studied this question.

synapsesocial.com/papers/6a0193df1adb974501cae9f6https://doi.org/10.1186/s13023-020-01391-y
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