Article
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Orphanet journal of rare diseases - 26 Aug 2020
Yoshida Shinichiro, Kido Jun, Sawada Takaaki, Momosaki Ken, Sugawara Keishin, Matsumoto Shirou, Endo Fumio, Nakamura Kimitoshi
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A). This leads to the progressive accumulation of metabolites, which can cause multisystemic dysfunction. A recent screening study among neonates reported an increase in the incidence of FD, and numerous FD patients remain undiagnosed or even...
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