AB172. High-throughput and cost-effective newborn screening method for female with fabry disease by DNA mass spectrometry in Taiwan

BackgroundOur team has implemented a newborn screening program for fabry disease in Taiwan since 2008. However, current enzyme-based newborn screening method is not reliable to detect heterozygous female patients. Estimatedly, more than 80% of female patients are missed by this enzyme-based screening method. The study aims to develop a simple, fast, reliable, and cost-effective method to screen fabry disease in females.