1. PKU
Conditions
Interventions
Supplementation of phenylalanine (Phe) to levels that simulate full discontinuation of dietary treatment. During two periods of four weeks each, an additional supplement of aminoacids will be added to
Sponsors
AMC
Eligibility
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 |
|---|---|
| The neuropsychological deficit profile of adults with treated PKU. 1. What are the relative strengths and weaknesses in the neurocognitive functioning of adults with treated PKU?; 2. Does supplementation of Phe to plasma levels comparable to levels observed in adult patients who fully discontinued their diet, influence neurocognitive functioning, and/or other disease parameters? | — |
Secondary
| Measure | Time frame |
|---|---|
| The neurophysiological mechanisms responsible for neuropsychological dysfunction in adults with treated PKU. 1. Can abnormal functional networks be demonstrated in adults with treated PKU?; 2. Is network disruption more severe following the intervention-related increase in phenylalanine level?; 3. Is there a correlation between the nature and severity of neuropsychological dysfunction in adults with treated PKU and the nature and severity of network disruption in these subjects? | — |
Contacts
Public ContactA.M. Bosch
AMC Afd. Kinderg./Metaboleziekten Postbis 22660
Outcome results
None listed