ポンペ患者におけるウサギのミルクからの再結合ヒトアルファ-グルコシダース
Lancet (London, England)
|September 6, 2000
まとめ
再結合ヒトアルファ-グルコシダース (rhGAA) の早期治療により,乳児のポンペ病の症状が改善されました. この酵素療法により,酵素の活性が正常化し,組織と心臓の機能が向上し,心臓のサイズが縮小した.
科学分野:
- バイオケミストリー バイオケミストリー
- 遺伝学 遺伝学とは
- 小児科は小児科です.
背景:
- ポンペ病は,酵素リゾソーマルアルファ-グルコシダゼ (GAA) の欠乏によって引き起こされる希少で致命的な神経筋肉疾患です.
- この欠乏は,リゾソームのグリコゲン蓄積につながり,特に筋肉細胞に影響を与え,進行的な筋肉の弱さや臓器損傷,特に心筋病を引き起こす.
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