TY - JOUR AU - Yoshida, Shinichiro AU - Kido, Jun AU - Sawada, Takaaki AU - Momosaki, Ken AU - Sugawara, Keishin AU - Matsumoto, Shirou AU - Endo, Fumio AU - Nakamura, Kimitoshi PY - 2020 DA - 2020/08/26 TI - Fabry disease screening in high-risk populations in Japan: a nationwide study JO - Orphanet Journal of Rare Diseases SP - 220 VL - 15 IS - 1 AB - 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 misdiagnosed. Therefore, this study aimed to identify patients with FD by performing high-risk screening in 18,135 individuals, enrolled from October 2006 to March 2019, with renal, cardiac, or neurological manifestations from all prefectures in Japan. A total of 601 hospitals participated in this study. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-020-01494-6 DO - 10.1186/s13023-020-01494-6 ID - Yoshida2020 ER -