The majority of patients with mild HPA and mild PKU who had the R241C allele responded to BH4 administration.
许多患轻度PKU和轻度HPA且有R241C基因位点的病人，都对BH4治疗有反应。
2
Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors.
BH4缺乏症者应尽早接受BH4及神经递质前质联合治疗。
3
All cases were diagnosed as BH4 deficiency by analysis of urinary pterins profile, BH4 loading test, and determination of dihydropteridine reductase in RBC.