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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 patients with unexplained causes of chronic kidney disease, left ventricular hypertrophy and stroke.
Objective: To develop the use of a-GAL A assay for future Fabry disease screening.
Methods: a-GAL A screening using fluorometry was performed in dried blood spot (DBS). The standardization was done using quality-control DBS pools provided by the CDC, USA. Validation of the assay was performed in 118 unrelated normal control subjects.
Results: The standardization of the assay was not different from the QC-DBS references. Validation of the assay in normal control subjects revealed no difference of a-GAL A activity between mates and females. The values at the 3rd centile was proposed for the use as cut-off points for Fabry disease screening in the Thai population, approximately 2.9 nmol/mL/hr.
Conclusions: a-GAL A assay using DBS-fluorometry was successfully developed in Ramathibodi Hospital. The establishment of biochemical testing for Fabry disease is expected to benefit the clinical service in the near future.
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