- 著者
- Saori Yamamoto Tasuku Nagasawa Koichiro Sugimura Atuhiro Kanno Shunsuke Tatebe Tatsuo Aoki Haruka Sato Katsuya Kozu Ryo Konno Kotaro Nochioka Kimio Sato Hiroaki Shimokawa
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- pp.0959-18, (Released:2018-10-17)
- 参考文献数
- 16
- 被引用文献数
- 8
Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q (G-to-A transition in exon 6 [codon 301] resulting in the replacement of a glutamine with an arginine residue). We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). Although all 10 cases had cardiac and renal manifestations in common, their clinical manifestations were markedly divergent despite the same genetic abnormality.