The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

摘要

BackgroundIt is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predictive value of the neonatal (test I) versus the 48-h BH4 loading test (test II) and long-term BH4 responsiveness.