BRAIN and NERVE－神経研究の進歩67巻9号

2015年09月発行

特集 酵素補充療法

ファブリ病—病態・臨床症状・酵素補充療法

著者： 澤井摂¹

所属機関： ¹千葉大学大学院医学研究院神経内科

ページ範囲：P.1099 - P.1108

文献概要

ファブリ病は，αガラクトシダーゼA酵素蛋白質をコードする遺伝子の異常によって起こる先天性脂質代謝異常症で，糖脂質の細胞蓄積が多臓器に障害を起こす。根治療法として酵素補充療法が開発され，現在，臨床で使用されている。これまでの研究から，臓器不全に進行する前に治療を開始することが有効だと言われており，早期の治療開始を実現するために，病態や症状の正しい理解に基づく早期診断が重要である。

参考文献

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