Abstract
Fabry disease is a rare disorder caused by deficient activity of alpha-galactosidase A (GLA) and often leads to organ damage. Fabry disease can be treated with enzyme replacement therapy, improving quality of life, but it often goes undiagnosed as neonatal screening programs suggest its true prevalence is much higher than what has been reported clinically. Given its low frequency, mass screening for Fabry disease is impractical. However, a targeted screening program of high-risk individuals may uncover previously unknown cases.
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