摘要
Abstract
Objective To neonatal Tongliang area were more than 40 kinds of inherited metabolic disease screening ,a prelimina‐ry understanding of the incidence of neonatal tongliang area of genetic and metabolic diseases ,neonatal department for my county common ,severe inherited metabolic disease prevention and treatment provide the basis for decision‐making .Methods Tandem mass spectrometry using new technologies from August 2014 to July 2015 birth and treatment of newborns in our district 46 kinds of ge‐netic metabolic disease screening and diagnostic services ,including amino acid metabolism ,organic acid metabolism ,fatty acid me‐tabolism ,etc .Results The total of 1547 cases of neonatal screening ,28 cases of suspicious positive ,the positive rate of 1 .81% ,di‐agnosed five cases ;in 28 cases screened positive cases ,two cases of 17 kinds of amino acid metabolism in disease incidence was 0 . 13% ;14 two cases of organic acids 0 .13% incidence of hyperlipidemia ;14 deficiency in fatty acid oxidation in one case ,the inci‐dence rate of 0 .06% ,total diagnosis was 17 .86% ,the total incidence rate of 0 .32% .3 patients were treated no obvious symptoms . All patients were receiving standard treatment and follow‐up ,diagnosis and treatment rate of 100% .Conclusion The preliminary draw tongliang Neonatal morbidity through genetic metabolic disease screening studies ,to prevent and treat disease for government departments to provide decision‐making basis for the diagnosis and treatment of patients and were positive .关键词
遗传代谢性疾病/新生儿疾病筛查/串联质谱Key words
hereditary metabolic diseases/neonatal screening/tandem mass spectrometry
