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目的:比较两种不同预处理法的尿液有机酸分析在遗传代谢性疾病筛查和诊断中的应用。方法:留取本院内分泌代谢科80例遗传代谢病高危患儿和80例同年龄段正常儿童尿液,分别经尿素酶预处理法和有机酸萃取预处理法处理后用GC-MS检测尿代谢产物,进行疾病诊断、代谢产物的定性、半定量及抗干扰性分析。结果:尿素酶预处理法共诊断15例代谢性疾病及1例肾小管重吸收障碍,有机酸萃取预处理法诊断出13例代谢性疾病;尿素酶预处理法能检测有机酸、氨基酸、糖、醇及嘧啶类等多种代谢产物,有机酸萃取预处理法仅能检测到有机酸;有机酸萃取预处理法对有机酸的检测值及抗干扰性都要高于尿素酶预处理法。结论:尿素酶预处理法适用于临床不能确诊的遗传代谢病的筛查;有机酸萃取预处理法则适用于临床高度怀疑为有机酸病的诊断。
OBJECTIVE: To compare the application of urine organic acid analysis by two different pretreatment methods in the screening and diagnosis of genetic metabolic diseases. Methods: Totally 80 high-risk children with inherited metabolic diseases and 80 normal children with the same age were enrolled in our hospital. Urine was collected by urease pretreatment and organic acid extraction pretreatment, respectively. Metabolites, disease diagnosis, qualitative, semi-quantitative and anti-interference analysis of metabolites. Results: Fifteen cases of metabolic diseases and one case of renal tubular reabsorption were diagnosed by urease pretreatment, and 13 cases of metabolic diseases were diagnosed by organic acid extraction pretreatment. Uricase pretreatment could detect organic acids, amino acids, sugars , Alcohols and pyrimidines and other metabolites, organic acid extraction pretreatment only organic acids can be detected; organic acid extraction pretreatment of organic acids detection value and anti-interference were higher than the urease pretreatment. Conclusion: The urease pretreatment method is suitable for the screening of clinically indeterminate genetic metabolic diseases. The organic acid extraction pretreatment method is suitable for the diagnosis of organic acid disease which is highly suspected in clinical practice.