高效液相色谱-荧光法测定苯丙酮尿症患者血清苯丙氨酸和酪氨酸  

Determination of Phenylalanine and Tyrosine in Serum of Patient with Phenylketonuria by High Performance Liquid Chromatography with Fluorescent Detection

作　　者：秦立新[1] 洪敏[1] 唐爱国[1] 莫喜明[1] 

机构地区：[1]中南大学湘雅二医院检验科,湖南长沙410011

出　　处：《实用预防医学》2005年第3期529-531,共3页Practical Preventive Medicine

摘　　要：目的探讨高效液相色谱-荧光法(HPLC-FLD)测定苯丙酮尿症(PKU)患者血清苯丙氨酸(Phe)和酪氨酸(Tyr)的临床价值。方法采用HPLC-FLD法检测PKU患儿和健康儿童的血清Phe和Tyr浓度,并计算Phe/Tyr的比值。结果PKU患儿组血清Phe浓度和Phe/Tyr比值极显著高于正常儿童组,血清Tyr浓度则较低。正常儿童血清Phe浓度为(92.66±18.78)μmol/L,Tyr浓度为(68.92±17.88)μmol/L,Phe/Tyr值为1.39±0.30;14例PKU的患儿Phe浓度为(1712.84±417.12)μmol/L,Tyr浓度为(47.53±24.08)μmol/L,Phe/Tyr值为41.78±16.79。结论HPLC—FLD法同时检测PKU的患者血清Phe和Tyr浓度,简便、快速、特异性好,适合苯丙酮尿症的筛查和治疗监测。Objective To evaluate the clinical feasibility of the phenylalanine （Phe） and tyrosine （Tyr） in serum of patients with phenylketonuria （PKU） determined by high performance liquid chromatography with fluorescent detection（ HPLG FLD）. Methods The serum Phe and Tyr concentration from patients with PKU and healthy children were determined by HPLO- FLD, and Phe/Tyr ratio was calculated. Results In PKU, the serum Phe was 1712.8 ± 417. 12 μmol/L, the Tyr 47.53 ± 24.08 μmol/L, and Phe/Tyr ratio was 41.78 ± 16.79. The content of Phe and Phe/Tyr ratio were significantly increased in PKU compared with the heathy children （p〈 0. 001 ）, while the serum Tyr was lower in PKU（p〈 0. 001 ）. Conclusions The method is simple, rapid and accurate in measurement of Phe and Tyr in serum of patient with PKU. It is very favorable in diagnosis and monitoring of PKU.

关 键 词：高效液相色谱法 苯丙氨酸 酪氨酸 苯丙酮尿症 新生儿筛查 

分 类 号：R596[医药卫生—内科学]