新生儿苯丙酮尿症筛查诊断方法与治疗现状

Current screening,diagnosis and treatment of phenylketonuria in neonates

苯丙酮尿症(phenylketonuria,PKU)是一种常染色体隐性遗传性疾病,主要由苯丙氨酸羟化酶或其辅酶四氢生物嘌呤缺陷引起苯丙氨酸(Phe)代谢障碍所导致。其临床表现不一,主要表现为发育迟缓、智力低下、小脑萎缩、湿疹、毛色浅淡、鼠气味等症状。如能得到及早筛查诊断,并给予积极治疗,则可避免上述临床表现发生。文章主要就当前PKU的筛查诊断方法与治疗现状进行阐述,以期为临床医生进一步认识该病提供指导。

Phenylketonuria(PKU)is an autosomal recessive inherited disease,which is mainly caused by phenylalanine metabolism disorder due to deficiency of phenylalanine hydroxylase or its coenzyme tetrahydrobiopurine.The clinical manifestations of PKU are heterogeneous,mainly character-ized by developmental delay,intellectual disability,cerebellar atrophy,eczema,lighter pigmentation of skin and hair,and a musty odour.Early screening and diagnosis as well as aggressive treatment may prevent the occurrence of the above clinical manifestations.This article mainly describes the current screening,diagnosis and treatment of PKU,in order to provide guidance for clinicians to further understand PKU.