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苯酮尿症(PKU)是一种常染色体隐性遗传的苯丙氨酸(PA)代谢病。1934年Folling A发现由遗传缺陷所致的智能发育不全(MR)。1953年Jervis GA发现PKU由PA羟化酶缺陷所致。应尽早把PKU作为MR的突破口进行研究。因为①它在遗传病中较为常见;②不及时治疗会致严重MR;③出生后尽早开始限制PA摄入的饮食疗法,可预防MR;④现可筛选并检出PKU病孩,从而使人们对此类疾病有进一步的了解。
Phenylketonuria (PKU) is an autosomal recessive phenylalanine (PA) metabolic disease. 1934 Folling A found that genetic defects caused by mental retardation (MR). In 1953 Jervis GA found that PKU is caused by PA hydroxylase deficiency. As soon as possible PKU as a breakthrough in MR research. Because ① it is more common in genetic diseases; ② not treated in time will result in serious MR; ③ as soon as possible after birth to start limiting the dietary intake of PA therapy can prevent MR; ④ screening and screening of patients with PKU now, so that people are right Further understanding of these diseases.