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Evaluation of BH4 Responsiveness in Our PKU Patients
Sponsor: Sohag University
Summary
This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype
Official title: Tetrahydrobiopterin Responsiveness in Phenylketonuria Prediction With the 48-hour Loading Test and Genotype
Key Details
Gender
All
Age Range
Any - Any
Study Type
INTERVENTIONAL
Enrollment
20
Start Date
2025-09-01
Completion Date
2026-09-01
Last Updated
2025-12-01
Healthy Volunteers
No
Conditions
Interventions
Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)
Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was \< 400 μmol/l. BH4 20 mg/kg was administered at T = 0 and T = 24. Blood samples were taken at T = 0, 8, 16, 24 and 48 h. Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point.
Locations (1)
Sohag Faculty of Medicine
Sohag, Egypt