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Published on: June 23, 2015
Living with phenylketonuria in adulthood
Sietske Haitjema1, Jade S Timmenga1, Charlotte M A Lubout1
1Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Nutrition (Burbank, Los Angeles County, Calif.)
|June 22, 2026
Summary
Phenylketonuria (PKU) dietary management impacts adult mental health, causing increased stress and fatigue. This affects daily life and social interactions for adults with PKU.
Area of Science:
- Metabolic disorders
- Nutritional science
- Psychology
Background:
- Phenylketonuria (PKU) is a genetic disorder requiring strict dietary treatment.
- Dietary management in PKU is known to cause eating problems and social restrictions in children.
- Limited data exists on the impact of PKU and its treatment on adults.
Purpose of the Study:
- To evaluate the impact of PKU and its dietary treatment on the daily lives of adults.
- To assess the prevalence and magnitude of eating and social problems in adults with PKU.
Main Methods:
- A web-based questionnaire was used, including PKU-specific questions, PROMIS short forms, and the SF36.
- 40 adults with PKU and 15 age-matched controls completed the survey.
- PROMIS scores were compared to US norms; SF36 scores were compared to a large Dutch cohort.
Main Results:
- Adults with PKU reported more stress during meals outside the home and social cancellations.
- PKU patients experienced increased fatigue and limitations due to emotional problems.
- Reduced perceived mental and general health was reported by adults with PKU.
Conclusions:
- PKU and its dietary treatment significantly affect adults.
- Mental health domains are particularly impacted in adults with PKU.
- Further research is needed to understand and mitigate these effects.
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