Objoon TrachooPaisan JittorntamSarunpong PibalyartSaowanee KajanachumpholNorasak SuvachittanontSuthep PatputthipongPiyatida ChuengsamanArkom NongnuchMahidol UniversityUttaradit Rajabhat UniversityBanphaeo Hospital (Prommitr Branch)2018-12-212019-03-142018-12-212019-03-142017-01-01Journal of Biomedical Research. Vol.31, No.1 (2017), 17-24167483012-s2.0-85013477371https://repository.li.mahidol.ac.th/handle/20.500.14594/42022© 2017 by the Journal of Biomedical Research. All rights reserved. We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (α-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in α-GAL A activity. There were no definitive pathogenic mutations observed in the molecular study. However, four patients revealed a novel nucleotide variant at c.1 -10 C > T, which was identified as a benign variant following screening in the normal population. In conclusion, the α-GAL A assay utilizing dried-blood spots revealed a significant false positive rate. There was no definitive Fabry disease confirmed in Thai patients diagnosed with ESRD of unknown etiology.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyArticleSCOPUS10.7555/JBR.31.20160063