MSUD is caused when a mutated form of the BCKDHA, BCKDHB or DBT gene is inherited from both parents. As a result of this mutation, the body is unable to break down certain parts of proteins. This ...

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.

The therapy worked as intended in knockout cells and was safe in wild-type mice, and also prevented death after birth in mice deficient in either BCKDHA or BCKDHB. The scientists visited a farm ...