关键词: 苯丙酮尿症, 苯丙氨酸, 诊断, 治疗

Abstract: 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.

Key words: phenylketonuria, phenylalanine, diagnosis, treat-ment