Establishment of Biochemical Screening for Fabry Disease in Ramathibodi Hospital Using Dried Blood Spot and Fluorometry Assay

• Main Authors: Paisan Jittorntam, Sarunpong Pibalyart, Saowanee Kajanachumpol, Norasak Suvachittanont, Arkom Nongnuch, Objoon Trachoo, ไพศาล จิตธรธรรม, ศรัณย์พงศ์ ภิบาลญาติ, เสาวนีย์ กาญจนชุมพล, นรศักดิ์ สุวจิตตานนท์, อาคม นงนุช, โอบจุฬ ตราชู
• Other Authors: Mahidol University. Faculty of Medicine Ramathibodi Hospital. Research Center
• Format: Original Article
• Language: English
• Published: 2022
• Subjects: Fabry; Dried blood spot; Fluorometry; Alpha-galactosidase
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/79689
• Institution: Mahidol University

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of Alpha-galactosidase A (a-GAL A). This enzyme defect results in the accumulation of glycolipid in various organs such as kidney, heart and brain. Therefore, screening of Fabry disease is recommended in...