苯丙酮酸尿症

Objective To investigate the mutation characteristics in exon 7 of the PAH gene in phenylketonuria patients in Xinjiang.

目的研究分析新疆地区苯丙酮尿症患者中苯丙氨酸羟化酶基因外显子7的突变特征。

Because of its phenylalanine content, persons with phenylketonuria must avoid it.

由于内含苯丙氨酸，患有苯丙酮尿症的人必须避免。

Persons with phenylketonuria do not metabolize phenylalanine properly and must adhere to a diet free of it.

患有苯丙酮尿症的人不能进行苯丙氨酸的正常代谢，必须采取没有苯丙氨酸的饮食方式。

In order to diagnose phenylketonuria early and rapidly for newborns,the fluorescence method for detecting phenylalanine is proposed.

苯丙酮尿症是一种由于人体正常染色体缺陷，造成的新生儿体内苯丙氨酸代谢紊乱性疾病。

Results: Good linearity was observed in 6～1512μmol.L-1 range for phenylalanine, the intra-run and inter-run imprecisions w ere 3.68%and 4.01%, the recovery rate was 98.6%; good linearity was observed in 5.4 ～1380.0μmol.L-1 range for tyrosine, the intra-run and inter-run i mp recisions were 1.87%and 2.59%, the average recovery rate was 98.9%.

酪氨酸的线性范围为5.4～1380μmol.L-1，最低检测浓度为0.7。μmol* L-1，平均回收率98.9%，批内CV为1.87%，批间CV为2.59%。健康儿童血清苯丙氨酸浓度为(61.4±10.8)μmol.L-1，血清酪氨酸浓度为(131.8±28.0)μmol.L -1。健康成人血清苯丙氨酸浓度为(69.3±8.6)μmol.L-1，血清酪氨酸浓度为(83.6±9.4)μmol.L-1.4例苯丙酮尿症患儿的血清苯丙氨酸浓度为1296～1759μmol.L-1，血清酪氨酸为29.5～53.5μmol.L-1。

BH loading tast and urine pterin analysis can be used as differental diagnosis methods for classical PKU and BH deficiency.

血苯丙氨酸浓度在口服BH后无明显变化，尿喋呤谱分析基本正常的患儿诊断为经典型苯丙酮尿症

Medical food Phenylketonuria food, protein-free bars

医疗食物类抗苯丙酮酸尿症食物，无蛋白质棒

Objective To compare two methods of phenylketonuria screening for newborn.

目的 比较筛查新生儿苯丙酮尿症的2种检测苯丙氨酸的方法―细菌抑制法和荧光法。

" Tyrosine: One of the amino acids, not essential for humans unless they have the hereditary disorder phenylketonuria ."

酪氨酸：一种氨基酸，对人体不是必需的，除非它们含有苯丙酮尿症。

Phenylalanine dehydrogenase (EC 1.4.1.20) is employed for the determination of Phenylketonuria in the clinic.

苯丙氨酸脱氢酶(Phenylalanine dehydrogenase，EC 1.4.1.20，简称PheDH)是临床苯丙酮尿症的检测用酶。

This one mode pays close attention to network credence foundation of the businessman very much.

这一模式非常关注商人的网络信用基础。

Cell morphology of bacterial ghost of Pasteurella multocida was observed by scanning electron microscopy and inactivation ratio was estimated by CFU analysi.

扫描电镜观察多杀性巴氏杆菌细菌幽灵和菌落形成单位评价遗传灭活率。