Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to progressive glycosphingolipid accumulation in the vasculature, kidneys, heart, and nervous system. Enzyme replacement therapy has been the standard of care since the early 2000s, while pegunigalsidase alfa and the oral pharmacological chaperone migalastat have expanded options for eligible patients. Newborn screening programmes are enabling earlier diagnosis and intervention.
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