Phenylketonuria
Conditions
Brief summary
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.
Detailed description
The aim of this explorative cross-sectional study is to gain quantitative insights on blood nutrient levels of adult PKU patients on a protein substitute.
Interventions
None listed
Sponsors
Nutricia Research
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
\- Inclusion Criteria: Both PKU and Non-PKU comparison subjects: 1. Age ≥18 years 2. Willing and able to provide signed informed consent PKU specific inclusion criteria 3. PKU patients identified by newborn screening and started low Phe diet before 1 month age 4. Usage of at least one Phe-free protein substitute (i.e. an amino acid mixture including micronutrients) on a daily basis for at least 26 consecutive weeks up to Visit 1 Non-PKU comparison subjects specific inclusion criteria: 5. Same age- (±3 years) and sex as an included PKU subject *
Exclusion criteria
Both PKU and Non-PKU comparison subjects: 1. For women: Currently pregnant or lactating 2. Current psychiatric disorders 3. Current Substance Use Disorders (as described in DSM V) 4. Current use of psychotropic and/or inotropic medication 5. Omega-3, antioxidant, (multi)vitamin and/or (multi)mineral supplement use within six weeks prior to entry in the study 6. Severe hepatic, thyroid or renal dysfunction 7. No acute illnesses like flu, diarrhea, or vomiting (subjects should be symptom free for a week prior to V1) 8. Participation in any other clinical intervention studies involving test products concomitantly or within six weeks prior to entry into the study 9. Other family members taking part in this study PKU subject specific
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Blood nutritional status | day 1 | Micro-and macronutrients and amino acid levels \[in a.o. mg/L\] |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Blood nutritional status | day 1 | Phe/Tyr ratio \[µmol/L\] |
| Nutrient intake | day 1 - day 7 | measured by three-day food diary. Nutrients in \[mg/day\] |
| Subjective cognitive well-being | day 1 - day 7 | measured by FACT-Cog questionnaire: \[four domains \[score-range): 1) patients' perceived cognitive impairments \[0-80\]; 2) perceived cognitive abilities \[0-36\]; 3) noticeability or comments from others \[0-16\]; 4) impact of cognitive changes on quality of life \[0-16\]. A summary score is obtained by summing all item scores \[0-148\]. |
Countries
Belgium, Denmark, Spain
Outcome results
None listed