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歷 年 稿 件 內 容
 
*類別：
* 姓名： 廖軒節
投稿種類： 壁報
*中文投稿標題： 利用串聯質譜儀篩檢台灣新生兒法布瑞氏症及龐貝氏症之研究
*中文作者姓名列：
*中文服務單位：
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* 投稿摘要： Background The interest in early detection for lysosomal storage disorders in newborns has increased in recent years due to the availability of diagnostic techniques and developed enzyme replacement treatment. We report the first newborn screening pilot study by using MS/MS methods in Taiwan for Fabry and Pompe diseases. The data were analyzed to determine the best newborn screening algorithm. Methods For the pilot study, we measure -glucosidase (GAL) activity for Fabry disease and -galactosidaseA (GAA) activity for Pompe disease by fluorometric and MS/MS methods for comparison. Then DBSs from 200,904 newborns were collected consecutively from February, 2010 to January, 2013, as part of the national routine Taiwan newborn screening programs, and assayed using electrospray ionization tandem mass spectrometry method. Genetic mutation analyses were done in newborns with suspected enzyme deficiency. Results and conclusions About 95% informed consents were obtained and enzyme activities were analyzed. 79 newborns were evaluated with low GAL activities and 228 with low GAA activities. Mutation analysis has confirmed 59 newborns with Fabry mutation, 15 with Pompe disease, and 24 newborns were still investigated. We found an unexpected high prevalence of cardiac variant Fabry mutation IVS4+919G>A, and newborn screening could facilitate the detection of infantile and later-onset Pompe disease in the Taiwan Chinese population. The early identification of undiagnosed patients allows timely therapeutic intervention providing a better clinical outcome.
*關鍵字1 ： Newborn screening
*關鍵字2 ： Mass spectrometry
*關鍵字3 ： Fabry disease
*關鍵字4 ： Pompe disease
*關鍵字5 ： enzyme activity
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* 第一作者： 廖軒節
* 身分字號： *****72620
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