phenylketonuria PKU
Conditions
Interventions
During two periods of four weeks each, an additional supplement of aminoacids
will be added to the diets of the subjects. During one of the 4 weeks periods
the supplement will not contain any Phe or
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Patients with PKU aged 18 and older who have been detected by newborn screening and have been continuously treated with a protein restricted diet and supplementation of aminoacids.
Exclusion criteria
Exclusion criteria: Poor dietary adherence with a mean phe value above 1100 umol/l in the year prior to the start of the study Pregnancy or the wish to conceive within 3 months after the end of the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| What is the neuropsychological deficit profile of adults with treated PKU? Does supplementation of Phe to plasma levels comparable to levels observed in adult patients who fully discontinued their diet, influence neurocognitive functioning or wellbeing? | — |
Secondary
| Measure | Time frame |
|---|---|
| Which neurophysiological mechanisms are responsible for neuropsychological dysfunction in adults with treated PKU? Can network disruption be demonstrated? Does supplementation of Phe to plasma levels comparable to levels observed in adult patients who fully discontinued their diet influence network disruption? This part of the study will be conducted by the department of neurology in the VUMC. This study will be submitted to the MEC of the VUMC. | — |
Countries
Netherlands
Outcome results
None listed