苯丙酮尿症患者病情控制前后血清氨基酸含量比较  

Comparison of serum amino acid content before and after controlling pathogenetic condition in patients with phenylketonuria

作　　者：林明[1] 龚岩[2] 杨建平[3] 张沙[1] 肖军军[1] 周柔丽[1] 

机构地区：[1]北京大学医学部基础医学院细胞生物学系,北京市100083 [2]北京大学第一医院检验科,北京市100034 [3]山西省妇幼保健院,山西省太原市030013

出　　处：《中国组织工程研究与临床康复》2007年第30期5875-5877,共3页Journal of Clinical Rehabilitative Tissue Engineering Research

摘　　要：目的:观察经治疗病情得到控制的苯丙酮尿症患者血清中支链氨基酸与芳香族氨基酸的变化,及与正常人群的区别。方法:实验于2005-12在北京大学医学部基础医学院细胞生物学系完成。选择山西省妇幼保健院提供的10例苯丙酮尿症患者为实验对象。年龄8个月～10岁,均为男性。根据新生儿疾病筛查方法,婴儿出生72h取足跟部血,发现血液苯丙氨酸浓度>120μmol/L时,诊断为苯丙酮尿症。均无并发症和其他基础疾病。由院方告之家长同意后取血。体质量均正常。治疗根据患者不同年龄,分别采用国产低(无)苯丙氨酸蛋白质、低(无)苯丙氨酸配方奶粉、低(无)苯丙氨酸的特殊营养食品,来控制苯丙氨酸的摄入量。于治疗前后进行血清氨基酸测定。结果:10例患者的测试数据均进入结果分析。10例患者治疗后病情得到控制的患者其苯丙氨酸水平较治疗前下降,未达到正常值但在理想范围之内,酪氨酸正常或上升,支链氨基酸与芳香族氨基酸的比值高于治疗前,但仍低于正常值[苯丙氨酸:正常值:(0.07±0.00)mmol/L,治疗前:(1.56±1.51)mmol/L,治疗后:(0.09±0.16)mmol/L;酪氨酸:正常值:(0.06±0.02)mmol/L,治疗前:(0.22±0.06)mmol/L,治疗后:(0.08±0.04)mmol/L;支、芳比值:正常值:>3.00±0.06,治疗前:0.47±0.21,治疗后:1.44±0.24,治疗后与治疗前比较,P<0.05]。结论:经治疗后的苯丙酮尿症患者血清氨基酸水平有明显改变。提示氨基酸代谢异常征,当其做为病因的主要氨基酸达到理想水平后,其余氨基酸的比例与正常值的比较,是否是此类疾病所特有的,与其他疾患的关联性以及其临床意义,应需进一步研究。AIM： To observe the changes of serum levels of aromatic amino acid and branch amino acid in patients with phenylketonuria （PKU） under control, and the difference from serum level of normal condition. METHODS： The experiment was performed at the Department of Cell Biology, School of Basic Medical Science, Peking University in December 2005. Ten male patients with PKU provided by Shanxi Women and Children Health Center were selected as experimental subjects, aged from 8 months to 10 years. According to the neonatal disease screening method, blood was collected from the feet of infants aged 72 hours. It found that they ware diagnosed as having HPA when the concentration of phenylalanine in blood was over 120 μmol/L. There was no other complication or basic disease. Blood was obtained after their parents agreed. Their body mass was normal. On the basis of different ages, special enriched Chinese food of low （no） phenylalanine protein, low （no） phenylalanine compounding milk powder and low （no） phenylalanine ware applied to control the intake of phenylalanine. Serum amino acid was determined before and after treatment. RESULTS： The test data of the 10 patients ware involved in the result analysis. The level of phenylalanine reduced in the patients, whose pathogenetic condition was controlled after treatment as compared with that before treatment, which was not the normal value, but in the ideal range. The level of tyrosine was normal or increased. The ratio of the aromatic amino acid to brench-amino acid was higher than that before treatment, but still lower than the normal value Lohenylalanine： normal value： （0.07±0.00） mmol/L, pre-treatment： （ 1.56±1.51 ） mmol/L, post-treatment： （0.09±0.16） mmol/L ; tyrosine： normal value： （0.06±0.02） mmol/L ,pre-treatment： （0.22±0.06） mmol/L ,post-treatment： （0.08±0.04）mmol/L ;ratio of the branch-amino acid to aromatic amino acid： normal value： 〉 3.00±0.06,pre-treatment： 0.47±0.21 ,post-treatment： 1.44

关 键 词：苯丙氨酸/血液 酪氨酸/血液 苯丙酮尿症/代谢 

分 类 号：R552[医药卫生—血液循环系统疾病]