枫糖尿病（MSUD）通常是由编码支链 α- 酮酸脱氢酶 E1α 亚基（BCKDHA）或 E1β 亚基（BCKDHB）的基因突变引起的。目前，其治疗手段仅有严格控制饮食或异体肝移植。 在本研究中，研究人员设计了一种由双向启动子驱动、包含 BCKDHA 和 BCKDHB 的单基因替代构建体 ...

它由 BCKDHA（支链 α- 酮酸脱羧酶）、二氢硫辛酰胺脱氢酶的双等位基因致病性变异引起。大脑是枫糖尿病主要累及的器官。枫糖浆尿病在每 86800 至 ...

A gene therapy to correct a mutation that causes maple syrup urine disease prevented newborn death and normalized growth in a calf as well as in mice.

New gene therapy for maple syrup urine disease shows promise in preventing deadly symptoms in cows and offers hope for patients.

A study by UMass Chan researchers showed that gene therapy correcting the mutation behind maple syrup urine disease (MSUD) prevented newborn death, normalized growth, restored coordinated gene ...