Evaluation of BH4 Responsiveness in Our PKU Patients

Tetrahydrobiopterin Responsiveness in Phenylketonuria Prediction With the 48-hour Loading Test and Genotype

This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype

Inclusion Criteria:

• 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

Exclusion Criteria:

• if phenylalanine was less than 400 μmol/l