广西部分地区氨基酸代谢病串联质谱筛查结果分析

吴柳霖; 林彩娟; 黄小桃; 罗静思; 钱家乐; 耿国兴

doi:10.16766/j.cnki.issn.1674-4152.002852

广西部分地区氨基酸代谢病串联质谱筛查结果分析

doi: 10.16766/j.cnki.issn.1674-4152.002852

吴柳霖^{1, 2, 3},
林彩娟^{1, 2, 3},
黄小桃^{1, 2, 3},
罗静思^{1, 2, 3},
钱家乐^{1, 3},
耿国兴^{1, 2, 3, ,}

1.
广西壮族自治区妇幼保健院遗传代谢中心实验室，广西南宁 530023
2.
广西壮族自治区出生缺陷预防控制研究所，广西南宁 530023
3.
广西壮族自治区新生儿疾病筛查中心，广西南宁 530023

基金项目:

国家重点研发计划项目 2017YFC1001703

广西壮族自治区卫生和计划生育委员会自筹经费科研课题 Z20200684

广西壮族自治区卫生和计划生育委员会自筹经费科研课题 Z2015234

详细信息

通讯作者:
耿国兴，E-mail：gengguoxingdxs@163.com

中图分类号: R589.3 R446.7
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- 文章访问数: 141
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- PDF下载量: 8
- 被引次数: 0
出版历程
- 收稿日期: 2022-02-18
- 网络出版日期: 2023-04-20

Analysis of neonatal amino acid metabolism disease screening by tandem mass spectrometry in certain areas of Guangxi

WU Liu-lin^{1, 2, 3},
LIN Cai-juan^{1, 2, 3},
HUANG Xiao-tao^{1, 2, 3},
LUO Jing-si^{1, 2, 3},
QIAN Jia-le^{1, 3},
GENG Guo-xing^{1, 2, 3
, ,}

1.
Genetic and Metabolic Center Laboratory, the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530023, China

摘要

摘要: 目的对广西部分地区新生儿串联质谱筛查氨基酸代谢病(AAD)情况进行总结分析，了解氨基酸代谢病的发病率及其种类特点。方法对2011年6月—2020年12月广西新生儿疾病筛查中心所管辖区的活产新生儿以及门诊及住院新生儿总计538 944例进行遗传代谢病的串联质谱检测，并对其中氨基酸代谢病的数据进行回顾性分析。结果在进行遗传代谢病串联质谱筛查的538 944例新生儿中，经基因检测共确诊6种氨基酸代谢病共27例，总体发病率为1/19 961，其中希特林蛋白缺乏症(NICCD)11例, 发病率为1/48 995，占比40.74%；苯丙酮尿症(PKU)8例，发病率为1/67 368，占比29.63%；瓜氨酸血症Ⅰ型(CTLN1)4例，发病率为1/134 736，占比14.82%；鸟氨酸胺甲酰基转移酶缺乏症(OTCD)2例, 发病率为1/269 472，占比7.41%；高甲硫氨酸血症(MET)1例, 发病率为1/538 944，占比3.70%；6-丙酮酰四氢蝶呤合成酶缺乏症(PTPS)1例, 发病率为1/538 944，占比3.70%。结论广西部分地区氨基酸代谢病主要以NICCD和PKU为主，新生儿遗传代谢病早期筛查和确诊有利于患儿及时有效的治疗，有利于控制出生缺陷的发生，提高出生人口质量。
- 氨基酸代谢病 /
- 串联质谱 /
- 结果分析
Abstract: Objective To analyse the status of neonatal amino acid disorders (AAD) screening with tandem mass spectrometry in certain areas of Guangxi and identify the incidence and types of amino acid disorders. Methods A total of 538 944 neonates, outpatient, and hospitalised neonates under the jurisdiction of Guangxi Neonate Disease Screening Centre from June 2011 to December 2020 were screened by tandem mass spectrometry for genetic metabolic diseases. The screening data of amino acid disorders were analysed retrospectively. Results Among the 538 944 neonates, 27 cases were diagnosed by genetic testing with six kinds of amino acid disorders, and the overall incidence rate was 1/19 961. These cases included the following: 11 cases of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), with the incidence rate of 1/48 995, accounting for 40.74%; 8 cases of phenylketonuria (PKU), with the incidence rate of 1/67 368, accounting for 29.63%; 4 cases of citrullinemia type Ⅰ (CTLN1), with the incidence rate of 1/134 736, accounting for 14.82%; 2 cases of ornithine transcarbamylase deficiency (OTCD), with the incidence rate of 1/269 472, accounting for 7.41%; 1 case of hypermethioninemia (MET), with the incidence rate of 1/538 944, accounting for 3.70%; and 1 case of 6-pyruvoyl terahydropterin synthase deficiency (PTPS), with the incidence rate of 1/538 944, accounting for 3.70%. Conclusion NICCD and PKU are the primary amino acid disorders that occur in certain areas of Guangxi. Early screening and diagnosis of neonatal genetic and metabolic diseases are conducive to timely and effective treatment of children, control of birth defects and improvement of birth population quality.
- Amino acid disorders /
- Tandem mass spectrometry /
- Result analysis

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表 1 538 944例新生儿AAD发病率及占比

Table 1. The incidence and proportion of AAD in 538 944 neonates

疾病名称	确诊例数	发病率	占比(%)
NICCD	11	1/48 995	40.74
PKU	8	1/67 368	29.63
CTLN1	4	1/134 736	14.82
OTCD	2	1/269 472	7.41
MET	1	1/538 944	3.70
PTPS	1	1/538 944	3.70
总计	27	1/19 961	100.00

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