苯丙酮尿症的研究进展

苯丙酮尿症属于一种常染色体隐性遗传病,被列为新生儿期必须筛查的疾病项目之一,其机理研究及治疗手段近年来不断有新的发展。本文综述该疾病的致病机理,临床表现,临床类型和治疗方法,尤其是四氢生物蝶呤替代疗法和基因治疗等新型治疗手段的研究进展。

Phenylketonuria(PKU)is a kind of autosomal recessive disease caused by deficiency of phenylalanine hydroxylase which plays an important part in phenylalanine metabolism.As a result,upstream products accumulate and brain or nervous systerm damages develop if left untreated.Although the dietary Phe restriction treatment has been put into practice for many years,it still has limitations and shotscomes.Instead,the advantages of gene therapy and BH(4)treatment are emerging.In this paper,recent advance in the pathogenesis and therapeutic methond on PKU are reviewed.