关键词: 先天性遗传代谢性疾病, 新生儿, 重症监护病房, 回顾性分析

Abstract: 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.

Key words: inherited metabolic disease, neonate, intense care unit, retrospective analysis