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The Psychosocial Functioning of Adults With Phenylketonuria.
Sponsor: Central Hospital, Nancy, France
Summary
Current recommendations are to maintain Phe levels \< 360 µmol/L throughout life (US consensus) or \< 600 µmol/L from the age of 12 (European consensus). Nevertheless, these recommendations do not take into account the individuality of each PKU patient who, in reality, reacts differently to Phe levels, with some patients with high levels (\> 1200 µmol/L) escaping the neurological consequences of high Phe levels without this being well understood (OJRD 2018; 13: 149. Can untreated PKU patients escape from intellectual disability? A systematic review). It is therefore unclear what blood levels of phenylalanine are required during adolescence and adulthood to maintain an optimal cognitive, emotional and neurophysiological state in individual PKU patients, depending on their personal responsiveness to Phe.
Key Details
Gender
All
Age Range
18 Years - 59 Years
Study Type
OBSERVATIONAL
Enrollment
30
Start Date
2026-01-15
Completion Date
2027-06-15
Last Updated
2026-02-12
Healthy Volunteers
Yes