江汉大学学报（自然科学版）

目的 探讨新生儿重症监护病房中先天性遗传代谢性疾病（IMD）的发病特点。方法 回顾性分析2018年10月至2020年10月华中科技大学同济医学院附属武汉儿童医院新生儿重症监护室收治的符合入组标准且接受了血液液相色谱-串联质谱法检测及尿气相色谱-质谱法检测的637例患儿临床资料。结果 637例患儿中，确诊IMD共计36例，总阳性率为5.6%，主要的IMD类型包括有机酸代谢障碍（18/36,50.00%）、氨基酸代谢障碍（7/36,19.44%）、尿素循环障碍（7/36,19.44%）等。有机酸代谢障碍中，主要包括甲基丙二酸血症、丙酸血症、戊二酸血症及异戊酸血症；氨基酸代谢障碍中主要为酪氨酸血症、高苯丙氨酸血症及枫糖尿病等。在IMD诊断明确的36例患儿中，首发表现主要为反应差或昏迷（8/36,22.22%）、纳差（6/36,16.67%）、体重增长缓慢（5/36,13.89%）、皮肤黄染（5/36,13.89%）、腹胀（4/36,11.11%）、抽搐（3/36,8.33%）以及呼吸困难（3/36,8.33%）等。结论 新生儿遗传代谢性疾病临床表现多样，对于存在高危表现的患儿进行筛查有助于早期明确诊断。

Objective To explore the pathogenesis characteristics of inherited metabolic disease in the neonatal intense care unit. Methods We retrospectively analyzed the clinical data of 637 neonates between October 2018 and October 2020 who met the inclusion criteria and underwent blood LC-MS-MS and urine GC-MS in the neonatal intensive care unit of Wuhan Children′s Hospital affiliated to Tongji Medical College of Huazhong University of Science and Technology. Results A total of 36 newborns were confirmed to have inherited metabolic disease in the 637 neonates,and the total positive rate was 5. 6%,including organic acidemias(18/36,50. 00%),amino acid metabolism(7/36,19. 44%),and urea cycle defect(7/36,19. 44%),et al. Methylmalonicacademia,propionic academia,glutaricacademia and isovaleric acidemia were the most common cause of organic acidemias. Tyrosinemia,hyperphenylalaninemia,and maple syrup urine disease were the main types of amino acid metabolism. The first presentation in these 36 neonates mainly include poor response or coma(8/36,22. 22%),poor appetite(6/36,16. 67%),slow increase of weight(5/36,13. 89%),jaundice(5/36,13. 89%), abdominal distention(4/36,11. 11%),convulse(3/36,8. 33%),and dyspnea(3/36,8. 33%). Conclusion The clinical manifestations of neonatal genetic metabolic diseases are diverse. Screening for children with high-risk manifestations is helpful for early diagnosis.