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苯丙酮尿症(简称PKU)是指苯丙氨酸羟化酶基因缺陷或基因突变导致了宋丙氨酸代谢障碍,使苯丙氨酸在体内蓄积起来,从而影响了大脑及神经系统的发育,造成不可逆的智力障碍。它是一种可以早期诊断和早期治疗的先天性氨基酸代谢病。因PKU在新生儿期缺乏特异的症状,给早期诊断
Phenylketonuria (PKU) refers to the phenylalanine hydroxylase gene defect or gene mutation leading to the metabolism of the Song alanine, so that accumulation of phenylalanine in the body, thus affecting the brain and nervous system development , Resulting in irreversible mental retardation. It is a congenital amino acid metabolic disease that can be diagnosed and treated early. Due to the lack of specific symptoms in early neonatal PKU, to early diagnosis