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Atypical phenylketonuria (PKU) is caused by tetrahydrobiopterin (BH4) deficiency. In Italy a systematic screening service for BH4 deficiency is not currently performed, therefore its real frequency is not known yet. We determined urinary excretion of biopterin (B) and neopterin (N) by HPLC in 74 phenylketonuric and hyperphenylalaninemic subjects, including all newborns with positive Guthrie's test for PKU since 1984. We found two patients with Nand B urinary values above the classical PKUdoi:10.1515/pteridines.19188.8.131.52 fatcat:aqjcrwjty5aqzgvyltxemahm4i