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JIMD Reports, Volume 43 pp 1–6Cite as

Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study

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Part of the book series: JIMD Reports ((JIMD,volume 43))

Abstract

Dietary phenylalanine restriction in phenylketonuria (PKU) patients is usually mandatory in order to prevent cognitive impairment. The influence of a low-protein diet on growth has raised concerns in families and caregivers. This paper aims to investigate the growth in PKU patients treated with a low-protein diet including supplementation of amino acids and other nutrients according to standard protocols.

We performed a single-center, cross-sectional study on growth in pediatric PKU patients (n = 51) treated with low-protein diet over a 20-month period. Height of healthy siblings (n = 44) and target height, calculated based on parents’ height, served as controls.

No statistically significant differences were found comparing mean height z-scores between patients and siblings (p = 0.261). Patients <12 years showed a reduction in mean height z-scores compared to the target height (p = 0.020), whereas postpubertal patients ≥12 years did not differ significantly in height z-scores compared to the target height (p = 0.071). Healthy siblings’ height did not differ from target height in neither age group (p = 0.100/p = 0.301).

Our results suggest that PKU patients treated with low-protein diet can achieve normal growth with patients making up the leeway after puberty. While prepubertal patients were shorter than expected based on their target height, older patients were within their expected target height. This study indicates that current practice of low-protein diet in PKU patients allows normal growth.

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Acknowledgement

We are obliged to all patients and their families who took part in this study. We would also like to thank Nathalie Wunderli and Priska Wuhrbach for their help in measuring the patients’ height. We also gratefully acknowledge the access to height percentiles elaborated by the Department of Developmental Paediatrics of the University Children’s Hospital Zurich under the direction of Prof. Dr. O. Jenni.

Author information

Authors and Affiliations

  1. Division of Metabolism, and Children’s Research Center, University Children’s Hospital Zurich, Zurich, Switzerland

    Jana Matic, Nina A. Zeltner & Johannes Häberle

Authors
  1. Jana Matic
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  2. Nina A. Zeltner
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  3. Johannes Häberle
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Corresponding author

Correspondence to Johannes Häberle .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, LA, USA

    Eva Morava

  2. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Daniela Karall

Appendices

Take-Home Message

After a prepubertal delay in growth, PKU patients treated with low-protein diet can achieve normal growth similar to their sibling and in accordance with their target height.

Compliance with Ethics Guidelines

Jana Matic, Nina A. Zeltner, and Johannes Häberle declare that they have no conflict of interest.

Jana Matic and Johannes Häberle have planned the study and performed the data collection. Jana Matic, Nina A. Zeltner, and Johannes Häberle have performed data analysis. Jana Matic has prepared the first draft of the manuscript and figures, which were revised by all authors. All authors have seen and approved the final version of the manuscript.

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© 2018 Society for the Study of Inborn Errors of Metabolism (SSIEM)

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Matic, J., Zeltner, N.A., Häberle, J. (2018). Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 43. JIMD Reports, vol 43. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_92

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  • DOI: https://doi.org/10.1007/8904_2018_92

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-58613-6

  • Online ISBN: 978-3-662-58614-3

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