尿中有机酸的毛细管气相色谱—质谱轮廓分析—用于苯丙酮尿症的诊断

应用毛细管气相色谱-质谱轮廓分析方法,测定了33例2.5～4.5岁健康儿童尿中有机酸种类及含量和8例拟诊为苯丙酮尿症儿童尿中的有机酸,结果表明患儿尿样中苯丙酮酸、苯乙酸、邻羟基苯乙酸、对羟基苯乙酸高于正常值10～470倍。为苯丙酮尿症的确诊提供了可靠方法。

Metabolic Profile Analysis of Organic Acids in Urine by Capillary Gas Chromatography-Mass Spectrometry--Application to Diagnosis of Phenylketonuria

A method for the metabolic profile determination of organic acids in urine is described. The determination of organic acids in urine from a group (A),which is composed of 33 healthy children under 4. 5 years old,has been proposed,the 68 organic acids in urine from group(A) were identifide by RI and GC/MS and average concentration of each organic acid in urine from group (A) was given. For group (B) of 8 children, who were screened to be patient with phenylketonuria.the profile determination of organic acids in urine was performed by the same method. Results show that the concentration of at least one of phenylacetic acid, o-hydroxyphenylacetic acid, phenyl-lactic acid and phenylketonuric acid, confirmed by RI and GC/MS ,is higher 10 fold than that in urine from group (A) . The abnormal metabolic profile of organic acids indicates that these children may be diagnosed to be patient with PKU.