广西部分地区氨基酸代谢病串联质谱筛查结果分析

  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。 

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

  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.