Management of adult patients with phenylketonuria : results from an internationl survey

Background: Information on the treatment practices of adult phenylketonuria (PKU) is scarce. Objectives: To evaluate the clinical practices and characteristics of centres for the treatment of adult PKU. Material and Methods: A questionnaire (25 questions) was sent via email (www.surveymonkey.com) in early 2012 to 204 healthcare practitioners (HCPs) who treat adults with PKU across the world. Results: HCPs (40%; 81/204) from 24 countries responded. Most followed adult patients have classical PKU (67%); 70% are aged 18-29 years; 60% are females. The maximum recommended target blood phenylalanine concentrations varied between 480 and 1200 micromol/L. HCPs (51%) reported being in contact with their adult patients three times a year; contact was lost with 14,3% of females and 18,8% of males. 71% are treated with a phenylalanine-restricted diet only; 22% receive no treatment at all; 4% receive a phenylalanine-restricted diet plus BH4/sapropterin. Most adult patients (90%) are still treated in paediatric centres. Conclusion: This study shows that most adult patients with PKU are in follow-up, possibly due to a young mean age of the cohort, and are treated. Recommendations to pursue life-long treatment seem to be followed by most clinics. Conflict of Interest declared.