《生命科学》 2013, 25(4): 372-377
摘 要：摘 要： 苯丙氨酸羟化酶(phenylalanine hydroxylase， PAH) 是人体内苯丙氨酸(phenylalanine， Phe) 转化成酪氨酸的关键酶。该酶肽链合成障碍导致其活性降低或缺失，从而引发不同的症状，从轻度的高苯丙氨酸血症(hyperphenylalaninemia， HPA) 到经典的苯丙酮尿症(phenylketonuria， PKU)。简述了苯丙氨酸羟化酶基因的结构、表达调控和突变；该酶的分布、结构和反应机制；在其他生物中的研究概况和人类苯丙酮尿症的致病机理、诊断和治疗的方法，这对苯丙酮尿症的预防和治疗有着重要的意义。
关键词：苯丙氨酸羟化酶；结构与功能；人类苯丙酮尿症
Abstract: Abstract: Phenylalanine hydroxylase (PAH) is a key enzyme converting Phe into Tyr in the human body. The disturbance of the PAH’s peptide synthesis will result in the decrease or loss of activity of this enzyme， thus causing different symptoms， from hyperphenylalaninemia， (HPA) to the classic phenylketonuria (PKU). This paper reviews the pah gene structure， regulation mechanism and mutation， as well as the distribution， structure and reaction mechanism of the PAH enzyme. The relative researches about PAH in other organisms and the pathogenesis， diagnostic and therapeutic method on human PKU are also included which may offer some useful data for the PKU’s prevention and treatment.
Key words: PAH; structure and function; human PKU
