一个患有II型D2-基酸氨酸尿症的个体的enasidenib诱导的肝炎
Jessica I Gold1, Arianna K Stefanatos2, Jamie L Fraser3,4,5
1Division of Medical Genetics, Department of Pediatrics Northwell Health New York New York USA.
JIMD reports
|May 13, 2024
概括
通过降低D2HGA水平,Enasidenib有效地治疗II型D2-基酸性酸性尿症 (T2D2HGA). 治疗改善了儿科患者的发作频率,发育进展和心脏功能.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科神经学 儿科神经学
背景情况:
- 第二种类型的D-2-Hydroxyglutaric酸性尿症 (T2D2HGA) 是一种罕见的遗传疾病,由异酸脱酶2 (IDH2) 的致病变体引起.
- 患者经常经历显著的发育延迟,和心脏问题,影响生活质量.
- IDH2抑制剂Enasidenib已经成为一种潜在的治疗剂,向负责T2D2HGA的特定IDH2变异.
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