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). Patients with mild PKU or partly responsive to the drug synthetic tetrahydrobiopterin (BH4) (Kuvan®) can change to a more relaxed diet. However due to difficulty to adapt their diet, these patients are at risk of an imbalanced nutritional status and an insufficient intake of specific micronutrients, essential amino acids and DHA (Docosahexaenoic acid). The study product is designed to improve the nutritional status of the patients. The study investigates if the nutritional status is indeed improved following 24 week use of the study product, and also the study aims to evaluate product acceptability.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
13
PKU Synergy is a citrus flavored, powdered amino-acid mixture (containing traces of Phe, 4,3mg per portion; and 20 gr. Protein Equivalent (PE)) with a tailored amino acid and micronutrient profile adapted for the special requirements of HPA/PKU (Hyperphenylalaninemia/Phenylketonuria) subjects over 10 years of age with an increased Phenylalanine-(Phe) tolerance/intake.
University hospital Leipzig
Leipzig, Germany
University hospital Münster
Münster, Germany
University Medical Center Groningen (UMCG)
Groningen, Netherlands
Nutrient intake
Change in nutrient intake after 24 weeks by analysis of 3 day diet diary. Nutrients (energy, micronutrients, essential amino acids and DHA) in \[(m)/(micro)gram/day\] or \[mg/day or mg/kg/day\]
Time frame: 24 weeks
Product acceptability
Product acceptability questionnaire \[category/score\] \[0-10\] and \[0-5\]
Time frame: 24 weeks
Compliance
Compliance (product consumption) using daily product intake diary \[number of products used per week; per sachet of 33g\]
Time frame: 24 weeks
Phenylalanine (Phe) levels
Dried bloodspot Phenylalanine (Phe) levels \[µmol/L\]
Time frame: 24 weeks
Blood chemistry: nutritional status
Blood chemistry: levels measured in blood: Full Fatty acid profile \[For each FA Erythrocyte Membranes level (%FA)\], full Amino acid profile \[µmol/L\], Vitamin B12 \[pM\], Vitamin D \[ng/ml /nmol/L\]; Folic acid \[nM\]; Selenium \[µM\]; Iodine \[µg/L/ ng/mL\]; Calcium \[mg/dL\]; Zinc \[µmol/L\]; Iron \[µg/L\] analyzed in blood samples by central laboratories
Time frame: 24 weeks
Anthropometrics: weight
Anthropometrics: Weight \[kg\]
Time frame: 24 weeks
Anthropometrics: height
Anthropometrics: Height \[cm or m\]
Time frame: 24 weeks
Anthropometrics: BMI
Anthropometrics: BMI \[kg/m2\], calculated from weight/height
Time frame: 24 weeks
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