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Blood phenylalanine control in phenylketonuria: a survey of 10 European centres

European Journal of Clinical Nutrition volume 65, pages 275–278 (2011)Cite this article

Subjects

Abstract

Background:

Only limited data are available on the blood phenylalanine (Phe) concentrations achieved in European patients with phenylketonuria (PKU) on a low-Phe diet.

Objective:

A survey was conducted to compare blood Phe control achieved in diet-treated patients with PKU of different age groups in 10 European centres.

Methods:

Centres experienced in the management of PKU from Belgium, Denmark, Germany, Italy, The Netherlands, Norway, Poland, Spain, Turkey and the United Kingdom provided retrospective audit data of all patients with PKU treated by diet over a 1-year period. Standard questions were used to collect median data on blood Phe concentrations, percentage of blood Phe concentrations below upper target reference ranges and frequency of blood Phe sampling.

Results:

Data from 1921 patients on dietary management were included. Blood Phe concentrations were well controlled and comparable across centres in the early years of life. The percentages of blood Phe concentrations meeting each centre's local and national target ranges were 88% in children aged up to 1 year, 74% for 1–10 years, 89% for 11–16 years and 65% for adults (>16 years). The frequency of home blood sampling, compared with local and national recommendations for monitoring Phe concentrations, appeared to decline with age (from approximately 100% in infancy to 83% in teenagers and 55% in adults).

Conclusions:

Although blood Phe control generally deteriorated with age, some improvement was observed in adolescent years across the 10 European centres. The blood Phe control achieved seemed comparable in many of the European centres irrespective of different dietary treatments or national policies.

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References

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Acknowledgements

We thank all members of the PKU treatment teams at their centres. We are also grateful to Dr Regina Ensenauer (Department of Metabolism and Nutrition, Dr von Hauner Children's Hospital, University of Munich, Germany) for a critical review of this manuscript. We acknowledge the contributions of physicians from the following countries: Belgium: Dr Philippe Goyens and Dr Corinne De Laet; Denmark: Dr Jytte Bieber Nielsen; Italy: Dr.ssa Elisabetta Salvatici; Norway: Dr Jens V Jorgensen and Dr Per Mathisen; The Netherlands: Dr Francjan. J van Spronsen; and Turkey: Professor Dr Turgay Co°kun. Data were used with permission of the responsible physicians. This study was sponsored by an unrestricted educational grant from Merck Serono SA—Geneva, Switzerland. We acknowledge editorial assistance provided by Dr Mike Gwilt (GT Communications, supported by Merck Serono SA—Geneva, Switzerland) and Dr Christina Herden (Physicians World Europe GmbH, supported by Merck Serono SA—Geneva, Switzerland).

Author information

Authors and Affiliations

  1. Department of PKU, Kennedy Centre, Glostrup, Denmark

    K Ahring

  2. Unidad Enfermendades Metabolices Servicio de Pediatria Hospital Ramon y Cajal, Madrid, Spain

    A Bélanger-Quintana

  3. Department of Metabolism and Nutrition, Dr. von Hauner Children's Hospital, University of Munich, Munich, Germany

    K Dokoupil

  4. Department of Nutrition and Dietetics, Hacettepe University, Ankara, Turkey

    H Gokmen-Ozel

  5. Department of Pediatrics, San Paolo Hospital University of Milan, Milan, Italy

    A M Lammardo

  6. The Children's Hospital, Birmingham, UK

    A MacDonald

  7. Department of Paediatric Research and Division of Pediatrics, Oslo University Hospital-Rikshospitalet, Oslo, Norway

    K Motzfeldt

  8. Department of Pediatrics, National Research Institute of Mother and Child, Warsaw, Poland

    M Nowacka

  9. Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium

    M Robert

  10. Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands,

    M van Rijn

Authors
  1. K Ahring
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  2. A Bélanger-Quintana
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  3. K Dokoupil
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  5. A M Lammardo
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Corresponding author

Correspondence to A MacDonald.

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Competing interests

Kirsten Ahring has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU.

Amaya Bélanger-Quintana has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU and the Scientific Advisory Board on PKU.

Katharina Dokoupil has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU.

Hulya Gokmen-Ozel has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU.

Anna Maria Lammardo has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU.

Anita MacDonald has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU and as a member of the Scientific Advisory Board on PKU. She has received honoraria for consulting or lecturing from SHS International, Nutricia and Merck Serono. She has received research grant funding from Vitaflo International, Nutricia and SHS International.

Kristina Motzfeldt has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU. She has received honoraria for consulting or lecturing from SHS International and Vitaflo Scandinavia.

Maria Nowacka has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU.

Martine Robert has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU.

Margreet van Rijn has received compensation from Merck Serono as a member of the European Nutritionist Expert Panel in PKU. She has received honoraria for consulting or lecturing from Milupa, Nutricia and Orphan Europe. She has received research grant funding from SHS International, Milupa, Metakids and Vitaflo International.

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Supplementary Information accompanies the paper on European Journal of Clinical Nutrition website

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Ahring, K., Bélanger-Quintana, A., Dokoupil, K. et al. Blood phenylalanine control in phenylketonuria: a survey of 10 European centres. Eur J Clin Nutr 65, 275–278 (2011). https://doi.org/10.1038/ejcn.2010.258

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