Lilleväli H, Ounap K, Metspalu A
Tartu University Institute of Molecular and Cell Biology, Estonian Biocentre, Estonia.
Eur J Hum Genet. 1996;4(5):296-300. doi: 10.1159/000472217.
Phenylalanine hydroxylase (PAH) is the enzyme which converts phenylalanine into tyrosine. In case of its deficiency, hyperphenylalaninemia is observed, which leads to phenylketonuria (PKU), a disease causing mental retardation, unless treated with a low-phenylalanine diet since early childhood. In Estonia, PKU is among the most common inherited metabolic diseases. The data from retrospective study and newborn screening show an approximate incidence of 1 in 6,000 newborns. Molecular analysis of 34 Estonian patients has revealed high genotypic homogeneity in this group, as 84% of the mutant alleles carry the R408W mutation. The high rate of this mutation in the Estonian population rises the speculation of Finno-Ugric contribution to the East European pool of mutant PAH alleles. Five more mutations-IVS12nt1, R261Q, R252W, R158Q, S349P-have been detected. The mutation detection rate was 92% among the studied patients.
苯丙氨酸羟化酶（PAH）是一种将苯丙氨酸转化为酪氨酸的酶。如果该酶缺乏，就会出现高苯丙氨酸血症，进而导致苯丙酮尿症（PKU），这种疾病会导致智力发育迟缓，除非从幼儿期就开始采用低苯丙氨酸饮食进行治疗。在爱沙尼亚，苯丙酮尿症是最常见的遗传性代谢疾病之一。回顾性研究和新生儿筛查的数据显示，每6000名新生儿中约有1例发病。对34名爱沙尼亚患者的分子分析表明，该群体中基因型同质性较高，因为84%的突变等位基因携带R408W突变。爱沙尼亚人群中这种突变的高发生率引发了关于芬兰 - 乌戈尔人对东欧突变PAH等位基因库贡献的推测。另外还检测到了5种突变——IVS12nt1、R261Q、R252W、R158Q、S349P。在所研究的患者中，突变检测率为92%。
