摘要
目的建立快速简便、准确可靠、拥有中国人种特异性的独立诊断标准的先天性代谢缺陷(inborn errors of metabolism,IEM)筛查方法。方法建立包含有机酸、氨基酸、糖类、多醇、嘌呤、嘧啶等168种化合物的尿特征代谢物气相质谱筛查谱库,利用尿素酶预处理-气相色谱-质谱法对1 200例IEM高危儿和357例代谢无异常患儿尿液样本中的筛查谱内化合物进行定性、定量检测,依据357例代谢正常患儿尿样本检测结果建立筛查谱内各化合物的基准值,以诊断IEM及非遗传性代谢异常。结果与基准值比较,1 200例高危儿中无代谢异常576例(48.0%),代谢异常624例(52.0%),其中诊断IEM 61例(5.1%),包括甲基丙二酸尿症47例,苯丙酮尿症4例,尿素循环障碍3例,丙酸血症2例,多种羧化酶缺乏2例,枫糖尿症、β-酮硫解酶缺乏症、焦谷氨酸尿症各1例;疑似IEM患儿19例;诊断为继发性代谢异常544例(45.3%)。结论尿素酶预处理-气相色谱-质谱技术方法和本研究建立的代谢性疾病诊断判读体系是协助诊断IEM和非遗传性代谢异常的有效方法。
Objective To establish a quick, easy, accurate and reliable screening method for inborn errors of metabolism （IEM） with Chinese specific diagnostic criteria. Methods Urea enzyme pretreatment-gas chromatography-mass spectrometry （UP-GC-MS） was used for qualitative and quantitative detection of 168 characteristic metabolites including organic acids, amino acids, sugars, polyol, purines and pyrimidines in urine samples collected from 1 200 high-risk IEM patients and 357 normal children. The reference value of characteristic metabolites obtained from the samples test results of 357 normal children were used to diagnose IEM and non-hereditary metabolic disorders. Results In 1 200 high-risk patients, 576 （48.0%） were found no metabolic disorders and 624 were found metabolic disorders （52.0%） including 61 （5. 1%） of IEM （47 of methylmalonie aciduria, 4 of phenylketonuria, 3 of urea cycle disorders, 2 of propionic academia, 2 of multiple carboxylase deficiency, 1 of maple syrup urine disease, 1 of beta-ketothiolase deficiency and 1 of pyroglutaric aciduria）, 19 of suspected IEM, and 544 （45. 3%） of secondary metabolic disorders. Conclusion UP-GCMS technique and diseases diagnosis standard built in our study are effective for IEM and non-hereditary metabolic disorders.
出处
《中华实用诊断与治疗杂志》
2015年第11期1059-1062,共4页
Journal of Chinese Practical Diagnosis and Therapy
基金
国家自然科学基金青年科学基金项目(31100603)
关键词
先天性代谢缺陷
气相色谱
质谱
尿液分析
Inborn errors of metabolism
gas chromatography
mass spectrometry
urinalysis
