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经典型苯丙酮尿症(plenyketonuria,PKU)为一种常染色体隐性遗传病,患者由于苯丙氨酸羟化酶(pnenylalaninc hydroxylasc,PAH)缺乏或不足,造成苯丙氨酸不能按其正常代谢途径转变为酪氨酸,使得苯丙氨酸及代谢物在体内大量蓄积,致使脑发育障碍,为了使患儿能早期发现,早期治疗,我院从1994至1998年间在晋中地区范围内进行了新生儿PKU筛查,共做4300例,现将结果报告如下。1.资料和方法 标本采于新生儿喂乳6次以上的耳垂血滴,试剂采于中国医学科学院基础医学研究所供应苯丙酮尿症筛查试剂盒,按说明书操作,结果大于
Classical phenylketonuria (PKU) is an autosomal recessive disorder in which patients fail to metabolize phenylalanine due to lack or deficiency of phenylalanine hydroxylasc (PAH) Pathways into tyrosine, making a large number of phenylalanine and metabolites in the body accumulation, resulting in brain development disorders, in order to enable children to early detection, early treatment, our hospital from 1994 to 1998 in Jinzhong region PKU screening of newborns, a total of 4300 cases, the results reported below. 1. Materials and Methods Specimens collected from newborn breast-feeding more than 6 times the lobe blood drops, the reagent collected in the Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences phenylketonuria screening kit, according to instructions, the result is greater than