aangeboren stofwisselingsziekte Phenylalanine hydroxylase deficiency
Conditions
Interventions
Addition of SRC or FRC to the 3d portion of amino-acid supplementation at
bedtime: the additional carbohydrates will be diluted in the fluid amino acid
supplement with some extra water. When the ami
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
2 Years to 11 Years
Inclusion criteria
Inclusion criteria: They are in good metabolic control, defined as a blood Phe concentration measurement within the target range of 120-360 µmol/l (Dutch PKU Advice Committee) one month prior to the study period. Apart from the PKU the patients are in a healthy state during the study periods. Their growth figures are within +/- 2 SD of the national growth charts. Patients take their amino acid supplementation divided into three portions each day. Participants / parents or caretakers are capable of routinely home skin puncturing without problems.
Exclusion criteria
Exclusion criteria: Blood Phe concentrations frequently beyond the target range, bad compliance in intake of the amino acid mixture, growth retardation > -2SD, obesity > +2SD, insufficient knowledge of the Dutch language of the caretaker, not taking blood samples at home
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Differences in blood Phe concentrations (and other amino acids?) between early morning (A) and end of the day (B) in the two study periods under the different conditions (without intervention, with SRC and with SRC) will be compared. | — |
Secondary
| Measure | Time frame |
|---|---|
| Relationship between the severity of the disease defined as the individual Phe tolerance at 5 years of age, and the resulting mean and SD of blood Phe concentrations of each period will be tested with univariate linear regression analysis (ANOVA). | — |
Countries
Netherlands
Outcome results
None listed