Journal of Inherited Metabolic Disease

, Volume 28, Issue 5, pp 639–649 | Cite as

Living with phenylketonuria: Perspectives of patients and their families

  • C. Bilginsoy
  • N. Waitzman
  • C. O. Leonard
  • S. L. Ernst


This study surveyed PKU patients and their primary caretakers to assess their current management practices, the barriers to effective management, and the potential utility of a home monitor in managing PKU. A survey instrument was mailed to caretakers of all 50 patients with PKU in Utah between the ages of 2 and 18 years in 1997 (response rate 64%). It included separate components for caretakers and patients aged 10 to 18 years. Although there was uneven compliance with recommended practices, caretakers universally recognized the negative consequences of not adhering to the low-protein diet. There was, however, disagreement regarding such consequences among the older children surveyed. The primary obstacles cited to better adherence were time constraints and stress associated with food preparation and record-keeping, and the restrictions imposed on social life. Phenylalanine test results were regarded as the principal signal for the need for dietary adjustment. Despite the facts that obstacles to dietary adherence are multifaceted and that no single intervention would therefore serve as a panacea, a large majority of respondents believed a home monitor would facilitate better management of PKU through more regular and timely feedback.


Phenylalanine Potential Utility Good Adherence Survey Instrument Current Management 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • C. Bilginsoy
    • 1
    • 3
  • N. Waitzman
    • 1
  • C. O. Leonard
    • 2
  • S. L. Ernst
    • 2
  1. 1.Department of EconomicsUniversity of UtahSalt Lake CityUSA
  2. 2.Department of PediatricsUniversity of UtahSalt Lake CityUSA
  3. 3.Department of EconomicsUniversity of UtahSalt Lake CityUSA

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