综合报道

气相色谱- 质谱法检测遗传代谢性疾病高危患儿

  • 彭薇 ,
  • 张万巧 ,
  • 封志纯
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  • 北京军区总医院附属八一儿童医院( 北京 100700)

收稿日期: 2014-09-15

  网络出版日期: 2014-09-15

基金资助

青年科学基金项目(No.31100603)

Analysis of inherited metabolic disease in Beijing by gas chromatography-mass spectrometry

  • PENG Wei ,
  • ZHANG Wanqiao ,
  • FENG Zhichun
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  • Bayi Children’s Hospital Affiliated to Beijing Military Region General Hospital, Beijing 100700,China

Received date: 2014-09-15

  Online published: 2014-09-15

摘要

目的 了解北京地区遗传性代谢性疾病(IMD)的发病情况。方法 利用气相色谱-质谱法(GC-MS)对IMD高危儿进行尿液化学分析。结果 411例IMD高危儿中检测出代谢异常269例(65.5%),其中确诊IMD 19例(4. 6%),包括甲基丙二酸血症15例,丙酸血症、高苯丙氨酸血症、尿素循环异常和焦谷氨酸尿症各1例;疑似IMD 22例(5.4%),包括乳酸血症13例,原发性甘油尿症5例,脂肪酸代谢异常4例,Citrin缺陷症、酪氨酸血症、半乳糖血症、3-甲基巴豆酰辅酶A羧化酶缺乏症、枫糖尿症各1例;其他代谢异常228例(55.5%),表现为尿乳酸、蔗糖、乳糖、半乳糖、N-乙酰酪氨酸、琥珀酸、双羧酸水平增高以及丝氨酸/苏氨酸比例异常等。结论 甲基丙二酸血症为北京地区最常见的IMD,对不能明确病因的患儿应尽早行GC-MS检测,必要时联合应用串联质谱检测和基因分析诊断。

本文引用格式

彭薇 , 张万巧 , 封志纯 . 气相色谱- 质谱法检测遗传代谢性疾病高危患儿[J]. 临床儿科杂志, 2014 , 32(9) : 888 . DOI: 10.3969 j.issn.1000-3606.2014.09.022

Abstract

Objective To learn the incidence of the inherited metabolic diseases in Beijing. Methods Urine samples were analyzed by gas chromatography-mass spectrometry??GC-MS??for inherited metabolic diseases in high risky infants in Beijing . Results Urine samples from 411 high risky infants were analyzed by gas chromatography-mass spectrometry. 269 cases (65.5%) were detected to have metabolic abnormalities, including 19 cases (4.6%) diagnosed of inherited metabolic diseases in which there were 15 cases of methylmalonic academia and 1 case each of propionic academia, hyperphenylalaninemia, urea cycle abnormality and pyroglutamic aciduria. There were 22 suspected cases (5.4%) of inherited metabolic diseases including 13 cases of lactic acidosis, 5 cases of primary glycerol aciduria, 4 cases of fatty acid metabolic disorders including 1 case each of Citrin defects, tyrosinemia, galactosemia 3-methylcrotonoyl coenzyme A carboxylase deficiency and maple syrup urine disease. There were also 228 cases (55.5%) of metabolic abnormalities, such as increasing urine levels of lactic acid, sucrose,lactose, galactose, N-acetyl tyrosine, succinic acid, dicarboxylic acid and abnormal serine/threonine ratio. Conclusions Methylmalonic academia might be the most common inherited metabolic diseases in high risky infants in Beijing. For infants with clinical manifestations but unclear etiology, GC-MS should be performed. MS-MS and gene analysis could be combined if necessary.
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