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Stroke and Chronic Kidney Disease in Fabry Disease
Daisy Tapia1, Virginia Kimonis2
1Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California - Irvine Medical Center, USA.
Abstract:
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to a deficiency of the enzyme alpha-galactosidase A (α-Gal A). Multiple organ systems are implicated in Fabry disease, most severely the cardiac, kidney, and central nervous systems. In this brief review, we will focus on the kidney and central nervous system involvement.
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