四氢生物蝶呤在苯丙酮尿症治疗中的应用

摘要

Until recently,the common treatment for phenylketonuria (PKU) was a phenylalanine (Phe)-restricted diet.Increasing evidence of suboptimal outcomes was observed in diet-treated individuals.The observation of clinically significant reductions in blood Phe levels in a subset of patients with PKU following oral administration of tetrahydrobiopterin(BH4),a cofactor of phenylalanine hydroxylase.Clinical studies suggest that treatment with BH4 provides better Phe control and increases dietary Phe tolerance,allowing significant relaxation or even discontinuation of dietary Phe restriction.The current knowledge on this novel pharmacologic approach to the treatment of PKU will be discussed.%迄今为止,苯丙酮尿症(PKU)唯一的治疗方法还是严格控制苯丙氨酸(Phe)摄入的饮食治疗.在饮食治疗的个体中观察到越来越多预后不良的证据.在一部分PKU患儿中发现,口服Phe羟化酶的辅因子[四氢生物蝶呤(BH4)]后,这些患者的血Phe水平显著减少.临床研究表明,BH4治疗PKU可以更好地控制血Phe水平,增加对饮食的耐受性,部分放宽、甚至完全放宽对严格饮食的控制.现讨论这种新型药物在PKU治疗中的应用进展.