Assessment of Tetrahydrobiopterin (BH4) Responsiveness in Phenylketonuria

BH4 responsiveness is more prevalent than was previously assumed, particularly in patients with mild hyperphenylalaninemia and mild PKU. Depending on the severity of hyperphenylalaninemia, selection criteria for the potential treatment with BH4 may range from 20% to 40% blood phenylalanine reduction after 24 hours.