2020
DOI: 10.21203/rs.3.rs-16566/v2
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Fabry disease screening in high-risk populations in Japan: A nationwide study

Abstract: Background: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause malfunctions in systemic organs. A recent screening study in newborns showed that the incidence of FD was more frequent than previously estimated and that there are still many undiagnosed or misdiagnosed patients with FD. Therefore, the purpose of this study was to identify pati… Show more

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