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The reality of dietary compliance in the management of phenylketonuria

  • Advances and Challenges in PKU
  • Published:
Journal of Inherited Metabolic Disease

Abstract

In phenylketonuria (PKU), it is common for blood phenylalanine (Phe) concentrations to be outside optimal target ranges, particularly in teenagers and adults, indicating inadequate compliance. It is well known that significant noncompliance exists, and the situation in PKU would appear no different than other chronic conditions. In PKU, compliance is complex, being subject to diverse definitions, and factors influencing compliance include the nature and nurture of the patient, as well as the inconvenience, cost and availability of dietary treatment. It is also a dynamic process, with many patients changing between a state of compliance and partial and noncompliance. In PKU, compliance has received little rigorous study, and there have been few observational reports identifying barriers and behaviors impacting dietary compliance. Compliance assessment measures remain inadequately defined. The direct assessment of blood Phe concentration is perhaps the best overall measure, but there is no universal agreement about the number of Phe concentrations that should be within target range and frequency or timing of measurement. Although no one strategy for improving compliance is universally effective, and an individualized approach to noncompliance is essential, it is important to have clear evidence about the most effective strategies in achieving long-term dietary adherence in PKU.

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Abbreviations

OMIM:

Online Mendelian Inheritance in Man (database)

PKU:

Phenylketonuria

Phe:

Phenylalanine

WHO:

World Health Organization

References

  • Bartels D (2004) Adherence to oral therapy for type 2 diabetes: opportunities for enhancing glycemic control. J Am Acad Nurse Pract 16:8–16

    Article  PubMed  Google Scholar 

  • Bekhof J, van Spronsen FJ, Crone MR, van Rijn M, Oudshoorn CGM, Verkerk PH (2003) Influence of knowledge of the disease on metabolic control in phenylketonuria. Eur J Pediatr 162:440–442

    PubMed  Google Scholar 

  • Bilginsoy C, Waitzman N, Leonard CO, Ernst SL (2005) Living with phenylketonuria: perspectives of patients and their families. J Inherit Metab Dis 28:639–649

    Article  CAS  PubMed  Google Scholar 

  • Buist NR, Prince AP, Huntington KL, Tuerck JM, Waggoner DD (1994) A new amino acid mixture permits new approaches to the treatment of phenylketonuria. Acta Paediatr Suppl 407:75–77, Erratum in: Acta Paediatr 1995; 84: 858

    Article  CAS  PubMed  Google Scholar 

  • Burgard P, Schmidt E, Rupp A, Schneider W, Bremer HJ (1996) Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr 155(Suppl 1):S33–S38

    Article  PubMed  Google Scholar 

  • Claxton AJ, Cramer J, Pierce C (2001) A systematic review of the associations between dose regimens and medication compliance. Clin Ther 23:1296–1310

    Article  CAS  PubMed  Google Scholar 

  • Cramer JA, Roy A, Burrell A et al (2008) Medication compliance and persistence: terminology and definitions. Value Health 11:44–47

    PubMed  Google Scholar 

  • Crone MR, van Spronsen FJ, Oudshoorn K, Bekhof J, van Rijn G, Verkerk PH (2005) Behavioural factors related to metabolic control in patients with phenylketonuria. J Inherit Metab Dis 28(5):627–637

    Article  CAS  PubMed  Google Scholar 

  • Derose SF, Nakahiro RK, Ziel FH (2009) Automated messaging to improve compliance with diabetes test monitoring. Am J Manag Care 15:425–431

    PubMed  Google Scholar 

  • Dezii CM (2001) Persistence with drug therapy: a practical approach using administrative claims data. Manag Care 10:42–45

    CAS  PubMed  Google Scholar 

  • Durham-Shearer SJ, Judd PA, Whelan K, Thomas JE (2008) Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource. J Hum Nutr Diet 21:474–485

    Article  CAS  PubMed  Google Scholar 

  • Evans S, Daly A, Hopkins V, Davies P, MacDonald A (2009) The impact of visual media to encourage low protein cooking in inherited metabolic disorders. J Hum Nutr Diet 22:409–413, Epub 2009 Apr 1

    Article  CAS  PubMed  Google Scholar 

  • Gokmen Ozel H, Kucukkasap T, Koksal G, et al (2008) Does maternal knowledge impact blood phenylalanine concentrations in Turkish children with phenylketonuria? J Inherit Metab Dis Jun 27; E-pub ahead of print. doi:10.1007/s10545-008-0775-3.

  • Gokmen-Ozel H, Ahring K, Bélanger-Quintana A et al (2009) Blood phenylalanine control in PKU: a survey of ten European centres. Poster presentation; 11th International Congress of Inborn Errors of Metabolism, 29 August-2 September 2009, San Diego, CA, USA. Mol Genet Metab 98(1-2):30–31 (Abstract)

  • Hayes RB, Taylor WR, Sackett DL (eds) (1979) Compliance in health care. John Hopkins University Press, Baltimore, pp 1–2

    Google Scholar 

  • Haynes RB, Ackloo E, Sahota N, McDonald HP, Yao X (2008) Interventions for enhancing medication adherence. Cochrane Database Syst Rev Apr 16(2):CD000011

    Google Scholar 

  • Hearnshaw H, Lindenmeyer A (2006) What do we mean by adherence to treatment and advice for living with diabetes? A review of the literature on definitions and measurements. Diabetes Med 23:720–728

    Article  CAS  Google Scholar 

  • Ipsiroglu OS, Herle M, Spoula E et al (2005) Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background. Wien Klin Wochenschr 117:541–547

    Article  PubMed  Google Scholar 

  • Julius RJ, Novitsky MA Jr, Dubin WR (2009) Medication adherence: a review of the literature and implications for clinical practice. J Psychiatr Pract 15:34–44

    Article  PubMed  Google Scholar 

  • MacDonald A, Rylance G, Hall SK et al (1996) Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch Dis Child 74:412–417

    Article  CAS  PubMed  Google Scholar 

  • MacDonald A, Rylance GW, Asplin D et al (1998) Does a single plasma phenylalanine predict quality of control in phenylketonuria? Arch Dis Child 78:122–126

    Article  CAS  PubMed  Google Scholar 

  • MacDonald A, Manji N, Evans S et al (2006a) Home delivery of dietary products in inherited metabolic disorders reduces prescription and dispensing errors. J Hum Nutr Diet 19:375–381

    Article  CAS  Google Scholar 

  • MacDonald A, Lilburn M, Davies P et al (2006b) ‘Ready to drink’ protein substitute is easier for people with phenylketonuria. J Inherit Metab Dis 29:526–531

    Article  CAS  Google Scholar 

  • MacDonald A, Chakrapani A, Hendriksz C et al (2006c) Protein substitute dosage in PKU: how much do young patients need? Arch Dis Child 91:588–593

    Article  CAS  Google Scholar 

  • MacDonald A, Davies P, Daly A et al (2008) Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria. J Hum Nutr Diet 21:351–358

    Article  CAS  PubMed  Google Scholar 

  • Marinker M (2000) Achieving concordance. Prim Care Pharm 1:93–95, Retrieved from http://www.pharmj.com/PrimaryCarePharmacy/200009/comment/viewpoint_concordance.html on 12 August 2009

    Google Scholar 

  • Nevins TE (2005) “Why do they do that?” The compliance conundrum. Pediatr Nephrol 20:845–848

    Article  PubMed  Google Scholar 

  • Olsson GM, Montgomery SM, Alm J (2007) Family conditions and dietary control in phenylketonuria. J Inherit Metab Dis 30:708–715

    Article  CAS  PubMed  Google Scholar 

  • Playle JF, Keeley P (1998) Non-compliance and professional power. J Adv Nurs 27:304–311

    Article  CAS  PubMed  Google Scholar 

  • van Spronsen FJ, Burgard P (2008) The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. J Inherit Metab Dis 31:673–679

    Article  PubMed  Google Scholar 

  • van Spronsen FJ, van Rijn M, van Dijk T et al (1993) Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing. Pediatrics 92:570–573

    PubMed  Google Scholar 

  • van Spronsen FJ, van Dijk T, Smit GPA et al (1996) Phenylketonuria: Plasma responses to different distributions of the daily phenylalanine allowance over the day. Pediatrics 97:839–844

    PubMed  Google Scholar 

  • Velligan DI, Wang M, Diamond P et al (2007) Relationships among subjective and objective measures of adherence to oral antipsychotic medications. Psychiatr Serv 58:1187–1192

    Article  PubMed  Google Scholar 

  • Vermeire E, Hearnshaw H, Van Royen P, Denekens J (2001) Patient adherence to treatment: three decades of research. A comprehensive review. J Clin Pharm Ther 26:331–42

    Article  CAS  PubMed  Google Scholar 

  • Walter JH, White FJ, Hall SK et al (2002) How practical are recommendations for dietary control in phenylketonuria? Lancet 360:55–57

    Article  CAS  PubMed  Google Scholar 

  • World Health Organization (2003) Adherence to long term therapies: evidence for action. WHO, Geneva. http://www.who.int/chp/knowledge/publications/adherence_introduction.pdf. Accessed 12 Aug 2009

    Google Scholar 

  • Zeman J, Pijackova A, Behulova J, Urge O, Saligova D, Hyanek J (1996) Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak Collaborative Study. Eur J Pediatr 155(Suppl 1):S56–S58

    Google Scholar 

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Acknowledgements

The authors take full responsibility for the content of this meeting report but thank Caudex Medical (supported by Serono Symposia International Foundation) for their assistance in editing this report and collating the comments of the authors and any other named contributors.

Author information

Authors and Affiliations

  1. Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK

    Anita MacDonald

  2. Faculty of Health Sciences, Nutrition and Dietetics Department, Hacettepe University, 06100, Samanpazarı, Ankara, Turkey

    Hulya Gokmen-Ozel

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

    Margreet van Rijn

  4. Center for Paediatric and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany

    Peter Burgard

Authors
  1. Anita MacDonald
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  2. Hulya Gokmen-Ozel
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  3. Margreet van Rijn
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  4. Peter Burgard
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Corresponding author

Correspondence to Anita MacDonald.

Additional information

Communicated by: Nenad Blau

Use of electronic databases: OMIM.

Competing interests: Anita MacDonald has received research grants from Merck Serono, SHS International, and Vitaflo International, and also compensation from Merck Serona as a member of the European Nutritionist Expert Panel in PKU. Margreet van Rijn has received research grant funding from SHS International, Milupa, Metakids, and Vitaflo International and also compensation from Merck Serona as a member of the European Nutritionist Expert Panel in PKU.

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MacDonald, A., Gokmen-Ozel, H., van Rijn, M. et al. The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis 33, 665–670 (2010). https://doi.org/10.1007/s10545-010-9073-y

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  • DOI: https://doi.org/10.1007/s10545-010-9073-y

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