Living with phenylketonuria in adulthood

OBJECTIVES: While the dietary treatment in phenylketonuria (PKU) is known to cause eating problems and social restrictions in children, knowledge of the prevalence and magnitude of these problems in adults is scarce. This study aimed to evaluate the impact of PKU and its dietary treatment on daily life of adults with PKU. METHODS: A web-based questionnaire consisting of a PKU-specific questionnaire, the Patient-Reported Outcomes Measurement Information System (PROMIS) short forms, and the 36-Item Short Form Health Survey (SF36) was completed by 40 adults with PKU and 15 age-matched controls without PKU. PROMIS scores were compared to the US-norm (T-score of 50, SD 10), and SF36 scores were compared to age-matched healthy individuals participating in a large Dutch population-based cohort (N > 40.000). RESULTS: Participants with PKU tended to experience more stress during dinner outside the home and more often canceled dinner with friends in comparison to Dutch controls (median 2 versus 1, P < 0.001; median 4 versus 5, P = 0.041). Adults with PKU experienced more fatigue and limitations in daily life due to emotional problems in comparison to the large Dutch cohort (M = 55 versus 67, P < 0.001; M = 68 versus 90, P < 0.001), and they also reported reduced perceived mental and general health (M = 70 versus 79, P < 0.005; M = 63 versus 75, P < 0.001). CONCLUSIONS: PKU and its dietary treatment may affect adults with PKU, particularly in mental health related domains.