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This observational cross-sectional multicenter study aims to assess the prevalence of overweight and obesity in adult patients with phenylketonuria (PKU) and to identify associated risk factors. Adult PKU patients followed in metabolic centers in Switzerland and Austria will be evaluated using clinical data, laboratory parameters, and standardized questionnaires addressing diet, physical activity, and psychological factors. The study seeks to better understand contributors to weight gain in this population to inform preventive strategies.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Adult PKU patients with overweight/obesity (BMI ≥ 25 kg/m²) | This cohort includes adult patients (≥18 years) with confirmed phenylketonuria presenting with overweight or obesity according to WHO BMI criteria. This is an observational group with no intervention. Participants will undergo a one-time assessment including standardized questionnaires evaluating physical activity (GPAQ), psychological status (PHQ-9), and eating behaviors (EDE-Q), as well as a dietary assessment (24-hour recall). Clinical, demographic, treatment-related (e.g., dietary adherence, sapropterin use), and retrospective laboratory data (e.g., phenylalanine levels and metabolic parameters) will be collected to identify factors associated with excess body weight. | ||
| Adult PKU patients with normal weight (BMI <25 kg/m²) | This cohort includes adult patients (≥18 years) with confirmed phenylketonuria and normal body weight. This is an observational group with no intervention. Participants will complete the same one-time assessments as Group 1, including standardized questionnaires (GPAQ, PHQ-9, EDE-Q), dietary assessment (24-hour recall), and collection of clinical, demographic, treatment-related, and retrospective laboratory data. This group will serve as a comparator to identify factors associated with overweight and obesity in the PKU population. |
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| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of overweight and obesity in adult PKU patients | Defined according to WHO BMI categories (overweight: 25.0-29.9 kg/m²; obesity class I-III: ≥30.0 kg/m²) | At enrollment |
| Measure | Description | Time Frame |
|---|---|---|
| Dietary adherence in adult PKU patients (self-reported adherence questionnaire) | Measured as the percentage (%) of participants classified as adherent, partially adherent, or non-adherent to dietary treatment. | At enrollment |
| Dietary intake in adult PKU patients (24-hour dietary recall) |
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Inclusion Criteria:
Exclusion Criteria:
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Participants will be recruited from adult metabolic clinics and inherited metabolic disease centers in Switzerland (CHUV in Lausanne, HUG in Geneva, Inselspital in Bern, University Hospital Zurich, University Hospital Basel, Kantonsspital St. Gallen) and Austria (AKH Universitätsklinikum, Vienna). This population represents adults with PKU who are actively followed in specialized reference centers, reflecting a mix of patients treated since birth through newborn screening programs and those diagnosed later in life
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Lausanne University Hospital | Lausanne | Canton of Vaud | 1011 | Switzerland |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36814307 | Background | Tankeu AT, Pavlidou DC, Superti-Furga A, Gariani K, Tran C. Overweight and obesity in adult patients with phenylketonuria: a systematic review. Orphanet J Rare Dis. 2023 Feb 22;18(1):37. doi: 10.1186/s13023-023-02636-2. |
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Individual participant data will not be publicly shared due to privacy and confidentiality concerns. The dataset contains sensitive personal health information, including metabolic laboratory values, dietary habits, psychological assessments, and treatment details. Although all data are coded and stored securely, sharing raw IPD could risk re-identification of participants. Aggregate results and de-identified summary data may be shared in publications or upon reasonable request, in compliance with Swiss data protection regulations.
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| ID | Term |
|---|---|
| D010661 | Phenylketonurias |
| D009765 | Obesity |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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Measured as daily intake (continuous variables) including total energy (kcal/day), phenylalanine (mg/day), protein (g/day), carbohydrates (g/day), lipids (g/day), and amino acid mixtures (g/day). |
| At enrollment |
| Disordered eating behaviors (Eating Disorder Examination Questionnaire, EDE-Q) | Measured as global EDE-Q score (continuous scale). | At enrollment |
| Depressive symptoms (Patient Health Questionnaire-9, PHQ-9) | Measured as total PHQ-9 score (0-27). Higher scores mean worse outcomes | At enrollment |
| Physical activity level (Global Physical Activity Questionnaire, GPAQ) | Measured as total physical activity (Days-hours-minutes/week). Higher scores mean better outcome | At enrollment |
| Plasma phenylalanine levels (metabolic control) | Measured as mean phenylalanine concentration (µmol/L) over the previous 12 months | Retrospective (12 months prior to inclusion) |
| Plasma tyrosine levels | Measured as mean tyrosine concentration (µmol/L) over the previous 12 months | Retrospective (12 months prior to inclusion) |
| Serum total cholesterol levels | Measured as concentration (mmol/L) from available laboratory data. | Retrospective (12 months prior to inclusion) |
| Serum triglyceride levels | Measured as concentration (mmol/L) from available laboratory data. | Retrospective (12 months prior to inclusion) |
| Blood glucose levels | Measured as concentration (mmol/L) from available laboratory data. | Retrospective (12 months prior to inclusion) |
| Thyroid-stimulating hormone (TSH) levels | Measured as concentration (mIU/L) from available laboratory data. | Retrospective (12 months prior to inclusion) |
| Vitamin B12 levels | Measured as concentration (pmol/L) from available laboratory data. | Retrospective (12 months prior to inclusion) |
| Folate (vitamin B9) levels | Measured as concentration (nmol/L) from available laboratory data. | Retrospective (12 months prior to inclusion) |
| Sapropterin treatment exposure | Measured as percentage (%) of participants receiving sapropterin (yes/no). | At enrollment |
| D009422 | Nervous System Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D001835 | Body Weight |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |