Phenylketonuria is a condition in which phenylalanine to tyrosine conversion is diminished because the enzyme phenylalanine hydroxylaze is deficient . 苯丙酮酸尿症是一种由于苯丙氨酸羟化酶缺乏，苯丙氨酸转变成酪氨酸的过程被削弱的病。
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Research on enzyme - biosensor detecting phenylketonuria 检验苯丙酮尿症的酶生物传感器研究
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Analysis on neonatal screening for phenylketonuria in fujian , china 福建省新生儿苯丙酮尿症筛查状况分析
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Comparative study on secondary seizure to tetrahydrobiopterin and phenylketonuria 高苯丙氨酸血症的抽搐机制研究
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Study on incidence and type of phenylketonuria and congenital hypothyroidism in newborn in tangshan city 唐山市新生儿苯丙酮尿症与先天性甲状腺功能减低症发病现状分析与研究
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For premature infants and babies with metabolic disorders such as phenylketonuria more specialized formulas can be recommended by a pediatrician or specialist nurse 对于出现代谢紊乱如苯丙酮酸尿症的早产儿，则需要由儿科医生或专业护士推荐出更特殊的配方奶。
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Phenylketonuria ( pku ) is an inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life . the disease arises from the deficiency of a single enzyme , phenylalanine hydroxylase , which converts the essential amino acid , phenylalanine , to another amino acid , tyrosine . failure of the conversion to take place results in a buildup of phenylalanine in the body that then damages the central nervous system 苯丙酮尿症（ pku ）是一种智力发育不全的先天性疾病，患者由于肝赃内苯丙氨酸羟化酶缺乏，苯丙氨酸不能正常代谢为酪氨酸，从而导致苯丙氨酸在肌体组织内积累，引起脑损伤和累进性精神障碍，临床表现为智力低下,头发颜色转黄，尿有异臭味，重者似鼠臭。
