Volume 21 Issue 2
Feb.  2023
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Article Navigation >  Chinese Journal of General Practice  > 2023  >  21(2): 231-233
WU Liu-lin, LIN Cai-juan, HUANG Xiao-tao, LUO Jing-si, QIAN Jia-le, GENG Guo-xing. Analysis of neonatal amino acid metabolism disease screening by tandem mass spectrometry in certain areas of Guangxi[J]. Chinese Journal of General Practice, 2023, 21(2): 231-233. doi: 10.16766/j.cnki.issn.1674-4152.002852
Citation: WU Liu-lin, LIN Cai-juan, HUANG Xiao-tao, LUO Jing-si, QIAN Jia-le, GENG Guo-xing. Analysis of neonatal amino acid metabolism disease screening by tandem mass spectrometry in certain areas of Guangxi[J]. Chinese Journal of General Practice, 2023, 21(2): 231-233. doi: 10.16766/j.cnki.issn.1674-4152.002852
shu

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

doi: 10.16766/j.cnki.issn.1674-4152.002852
  • 1.

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

Funds:

 2017YFC1001703

 Z20200684

 Z2015234

  • Received Date: 2022-02-18
    Available Online: 2023-04-20
    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.

     

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    • References(20)
  • [1]
    钟锦平, 彭维林, 傅清流, 等. 福建泉州地区新生儿氨基酸代谢障碍的筛查结果分析[J]. 现代检验医学杂志, 2020, 35(4): 41-44, 78. doi: 10.3969/j.issn.1671-7414.2020.04.010

    ZHONG J P, PENG W L, FU Q L, et al. Retrospective analysis of the neonatal screening results of amino acid disorders in quanzhou region, Fujian Province[J]. Journal of Modern Laboratory Medicine, 2020, 35(4): 41-44, 78. doi: 10.3969/j.issn.1671-7414.2020.04.010
    [2]
    刘洪喜, 朱志平, 虞斌, 等. 串联质谱与高通量测序技术在新生儿疾病筛查中的应用[J]. 现代预防医学, 2020, 47(1): 115-118. https://www.cnki.com.cn/Article/CJFDTOTAL-XDYF202001033.htm

    LIU H X, ZHU Z P, YU B, et al. Application of tandem mass spectrometry and high throughput sequencing technology in neonatal disease screening[J]. Modern Preventive Medicine, 2020, 47(1): 115-118. https://www.cnki.com.cn/Article/CJFDTOTAL-XDYF202001033.htm
    [3]
    魏克伦, 文伟. 新生儿遗传代谢病筛查[M]. 北京: 科学出版社, 2020: 1-8.

    WEI K L, WEN W. Screening for genetic metabolic diseases in neonates[M]. Beijing: Science Press, 2020: 1-8.
    [4]
    LOEBER J G, PLATIS D, ZETTERSTROM R H, et al. Neonatal screening in Europe revisited: an ISNS perspective on the current state and developments since 2010[J]. Int J Neonatal Screen, 2021, 7(1): 15-36. doi: 10.3390/ijns7010015
    [5]
    国家卫生健康委员会临床检验中心新生儿遗传代谢病筛查室间质评委员会. 新生儿遗传代谢病筛查指标切值建立方法专家共识[J]. 中国实用儿科杂志, 2019, 34(11): 881-884. https://www.cnki.com.cn/Article/CJFDTOTAL-ZSEK201911002.htm

    Clinical Laboratory Center of the National Health Commission Interlaboratory Quality Evaluation Committee of Neonatal Genetic Metabolic Disease Screening. Expert consensus on the method of establishing the cutoff value of screening indexes for hereditary and metabolic diseases in the newborn[J]. 中国实用儿科杂志, 2019, 34(11): 881-884. https://www.cnki.com.cn/Article/CJFDTOTAL-ZSEK201911002.htm
    [6]
    于爱真, 冯雪, 王欣. 质谱检测联合下一代测序在新生儿遗传代谢病诊断中的应用[J]. 海南医学, 2021, 32(2): 177-180. https://www.cnki.com.cn/Article/CJFDTOTAL-HAIN202102011.htm

    YU A Z, FENG X, WANG X. Application of mass spectrometry combined with next-generation sequencing in the diagnosis of neonatal genetic and metabolic diseases[J]. Hainan Medical Journal, 2021, 32(2): 177-180. https://www.cnki.com.cn/Article/CJFDTOTAL-HAIN202102011.htm
    [7]
    耿国兴, 林彩娟, 黄小桃, 等. 42 708例新生儿耳聋基因筛查结果分析[J]. 中华全科医学, 2020, 18(10): 1688-1690. doi: 10.16766/j.cnki.issn.1674-4152.001594

    GENG G X, LIN C J, HUANG X T, et al. An analysis of deafness genes screening in 42 708 newborns[J]. Chinese Journal of General Practice, 2020, 18(10): 1688-1690. doi: 10.16766/j.cnki.issn.1674-4152.001594
    [8]
    SHIBATA N, HASEGAWA Y, YAMADA K, et al. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: selective screening vs expanded newborn screening[J]. MGM Reports, 2018, 16(1): 5-10.
    [9]
    马胜举, 赵德华, 马坤, 等. 河南省2013—2019年新生儿遗传代谢病筛查回顾性分析[J]. 检验医学与临床, 2020, 17(14): 1965-1968. doi: 10.3969/j.issn.1672-9455.2020.14.006

    MA S J, ZHAO D H, MA K, et al. Retrospective analysis on screening of neonates inherited metabolic diseases from 2013 to 2019 in Henan province[J]. Laboratory Medicine and Clinic, 2020, 17(14): 1965-1968. doi: 10.3969/j.issn.1672-9455.2020.14.006
    [10]
    张亚果, 苏星月, 李婷, 等. 四川省部分地区新生儿遗传代谢病串联质谱筛查情况分析[J]. 中国儿童保健杂志, 2020, 28(7): 809-812. https://www.cnki.com.cn/Article/CJFDTOTAL-ERTO202007027.htm

    ZHANG Y G, SU X Y, LI T, et al. Analysis of screening for neonatal inherited metabolic disorders by tandem mass spectrometry in parts of Sichuan province[J]. Chinese Journal of Child Health Care, 2020, 28(7): 809-812. https://www.cnki.com.cn/Article/CJFDTOTAL-ERTO202007027.htm
    [11]
    鄢慧明, 贾政军, 刘静, 等. Tandem mass spectrometry screening of 565 182 newborns for inherited metabolic diseases in Hunan province[J]. Chinese Journal of Applied Clinical Pediatrics, 2019, 34(20): 1541-1545. https://www.cnki.com.cn/Article/CJFDTOTAL-ZGTN201505017.htm

    YAN H M, JIA Z J, LIU J, et al. Tandem mass spectrometry screening of 565 182 newborns for inherited metabolic diseases in Hunan province[J]. Chinese Journal of Applied Clinical Pediatrics, 2019, 34(20): 1541-1545. https://www.cnki.com.cn/Article/CJFDTOTAL-ZGTN201505017.htm
    [12]
    YUSKIV N, POTTER B K, STOCKLER S, et al. Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices[J]. Orphanet J Rare Dis, 2019, 14(1): 7-19.
    [13]
    孙丽芳, 李杰. 串联质谱技术应用于新生儿遗传代谢病筛查, 以甘肃省为例[J]. 基因组学与应用生物学, 2020, 39(4): 1955-1960. https://www.cnki.com.cn/Article/CJFDTOTAL-GXNB202004068.htm

    SUN L F, LI J. Tandem mass spectrometry applied to the screening of neonatal genetic metabolic diseases, an example of Gansu Province[J]. Genomics and Applied Biology, 2020, 39(4): 1955-1960. https://www.cnki.com.cn/Article/CJFDTOTAL-GXNB202004068.htm
    [14]
    朱颖杰, 张雯艳, 宋萍, 等. 105 437例新生儿遗传代谢病串联质谱筛查结果分析[J]. 中国妇幼保健, 2020, 35(20): 3837-3839. https://www.cnki.com.cn/Article/CJFDTOTAL-ZFYB202020041.htm

    ZHU Y J, ZHANG W Y, SONG P, et al. Analysis of tandem mass spectrometry screening results of 105437 neonates with genetic metabolic diseases[J]. Maternal and Child Health Care of China, 2020, 35(20): 3837-3839. https://www.cnki.com.cn/Article/CJFDTOTAL-ZFYB202020041.htm
    [15]
    谢蔓芳, 罗海仱, 胡玲, 等. 血串联质谱技术在新生儿遗传性代谢性疾病中的诊断价值分析[J]. 中国优生与遗传杂志, 2020, 28(6): 729-731. https://www.cnki.com.cn/Article/CJFDTOTAL-ZYYA202006024.htm

    XIE M F, LUO H Q, HU L, et al. Analysis of diagnostic value of blood tandem mass spectrometry in neonatal hereditary metabolic diseases[J]. Chinese Journal of Birth Health & Heredity, 2020, 28(6): 729-731. https://www.cnki.com.cn/Article/CJFDTOTAL-ZYYA202006024.htm
    [16]
    孙云, 王彦云, 马定远, 等. 南京地区175 767例串联质谱技术新生儿筛查结果分析[J]. 中华围产医学杂志, 2020, 23(4): 224-225, 231.

    SUN Y, WANG Y Y, MA D Y, et al. Newborn screening by tandem mass spectrometry in Nanjing: a retrospective analysis of 175 767 cases[J]. Chinese Journal of Perinatal Medicine, 2020, 23(4): 224-225, 231.
    [17]
    石海杰, 赵振东. 海南省少数民族地区37 482例新生儿遗传代谢病筛查结果分析[J]. 中华妇幼临床医学杂志(电子版), 2021, 17(1): 30-36. https://www.cnki.com.cn/Article/CJFDTOTAL-ZHFY202101007.htm

    SHI H J, ZHAO Z D. Analysis of 37 482 newborns screened for inborn errors metabolism in minority nationality regions of Hainan Province[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics (Electronic Edition), 2021, 17(1): 30-36. https://www.cnki.com.cn/Article/CJFDTOTAL-ZHFY202101007.htm
    [18]
    张晓刚, 杨建平, 阎亚琼, 等. 81 138例新生儿遗传代谢病串联质谱筛查结果回顾性分析[J]. 中国医师杂志, 2019, 21(7): 1081-1082. https://www.cnki.com.cn/Article/CJFDTOTAL-ZGRK202301015.htm

    ZHANG X G, YANG J P, YAN Y Q, et al. Retrospective analysis of tandem mass spectrometry screening results of 81 138 neonates with genetic metabolic diseases[J]. Journal of Chinese Physician, 2019, 21(7): 1081-1082. https://www.cnki.com.cn/Article/CJFDTOTAL-ZGRK202301015.htm
    [19]
    WANG T, MA J, ZHANG Q, et al. Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in Suzhou, China: disease spectrum, prevalence, genetic characteristics in a Chinese population[J]. Front Genet, 2019, 10(10): 1052-1069.
    [20]
    汤欣欣, 郑芹, 刘双, 等. 串联质谱技术在连云港地区110158例新生儿遗传代谢病筛查中的应用分析[J]. 中国妇幼保健, 2019, 34(24): 5717-5720. https://www.cnki.com.cn/Article/CJFDTOTAL-ZFYB201924057.htm

    TANG X X, ZHENG Q, LIU S, et al. Application analysis of tandem mass spectrometry in the screening of 110 158 neonatal genetic metabolic diseases in the area of Lianyungang[J]. Maternal and Child Health Care of China, 2019, 34(24): 5717-5720. https://www.cnki.com.cn/Article/CJFDTOTAL-ZFYB201924057.htm
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