Li Xia, He Ling, Sun Yuting, Huang Xuzhen, Luo Yechao, Li Yujiao, Zhou Shihao, Zeng Yudong, He Jun
Hunan Provincial Key Laboratory for Regional Hereditary Birth Defects Prevention and Control, Changsha Maternal and Child Health Care Hospital Affiliated to Hunan Normal University, Changsha, Hunan 410007, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10;40(9):1075-1085. doi: 10.3760/cma.j.cn511374-20220629-00441.
To retrospectively analyze the screening results for genetic metabolic diseases among newborns from Changsha in order to determine the prevalence of single diseases and their mutational spectrum.
352 449 neonates born from January 2016 to December 2021 in Changsha were subjected to tandem mass spectrometry. Suspected cases were further analyzed by biochemical and genetic testing.
Among the 352 449 newborns, 6 170 were positive for the screening, which yielded a positive rate of 1.75%. 5 437 cases were recalled, and 92 were confirmed, with the overall prevalence being 1∶3 831 and positive predictive value of 1.69%. Eighteen genetic metabolic diseases were detected among the 92 children, including 33 amino acid metabolic disorders, among which 20 were phenylalanine hydroxylase deficiency (60.60%). 17 cases had organic acid metabolic disorders, among which 4 were 2-methyl-dehydrogenase deficiency (23.50%). 42 had fatty acid metabolic disorders, among which 27 (64.30%) were primary carnitine deficiency and 12 were short-chain acyl-CoA dehydrogenase deficiency (28.60%). In total 90 genetic variants were identified, with the most common ones including c.51C>G, c.1400C>G, c.760C>T, c.1031A>G and c.1165A>G.
The common neonatal genetic metabolic diseases in Changsha include primary carnitine deficiency, phenylalanine hydroxylase deficiency and short-chain acyl-CoA dehydrogenase deficiency. The preliminary delineation of mutational spectrum for genetic metabolic diseases in Changsha can facilitate early diagnosis and intervention, so as to improve the quality of newborn population.
回顾性分析长沙市新生儿遗传代谢病筛查结果，以确定单病种患病率及其突变谱。
对2016年1月至2021年12月在长沙出生的352449例新生儿进行串联质谱检测。疑似病例进一步进行生化和基因检测。
在352449例新生儿中，筛查阳性6170例，阳性率为1.75%。召回5437例，确诊92例，总体患病率为1∶3831，阳性预测值为1.69%。92例患儿共检出18种遗传代谢病，其中氨基酸代谢障碍33例，其中苯丙氨酸羟化酶缺乏症20例（60.60%）；有机酸代谢障碍17例，其中2-甲基丁酰辅酶A脱氢酶缺乏症4例（23.50%）；脂肪酸代谢障碍42例，其中原发性肉碱缺乏症27例（64.30%），短链酰基辅酶A脱氢酶缺乏症12例（28.60%）。共鉴定出90种基因变异，最常见的包括c.51C>G、c.1400C>G、c.760C>T、c.1031A>G和c.1165A>G。
长沙市新生儿常见的遗传代谢病包括原发性肉碱缺乏症、苯丙氨酸羟化酶缺乏症和短链酰基辅酶A脱氢酶缺乏症。初步明确长沙市遗传代谢病的突变谱，有助于早期诊断和干预，从而提高新生儿群体质量。
