A member asked:

Is gene therapy for maple syrup urine disease?

A doctor has provided 1 answer

Not Yet: Msud is a very rare genetic d/o where one is unable to break down the Amino Acids (aa): leucine, isoleucine, & valine. The degree to which an individual might be affected varies. In the us it is diagnosed with neonatal screening which takes place when the baby is around 24 hrs old. Treatment is with dietary avoidance of these aa to spare brain damage and possible death.

Answered 6/24/2014

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