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Updated: Sep 9, 2025

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TPIの欠陥:事例報告と文献のレビュー

Aaron Williams1, Monika Weisz-Hubshman1, Vittoria Rossi2

  • 1Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Texas Children's Hospital, Houston, TX, United States.

Molecular genetics and metabolism
|September 2, 2025
PubMed
まとめ

トリオフォスファートイソメラーゼ欠乏症は重度の血液溶解性貧血と異常な神経筋肉症状を引き起こす. 遺伝子型とフェノタイプの関連は 特定の変異が致命的な結果をもたらすことを示唆し,緊急の治療研究を必要とします.

キーワード:
ヘモリティック・アネミア神経変性発作についてトリオホスファートイソメラーゼ (TPI) 欠乏症

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