3 doctors weighed in:

Is gene therapy for maple syrup urine disease?

3 doctors weighed in
Dr. Vered Lewy-Weiss
Pediatrics - Endocrinology
2 doctors agree

In brief: 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.

In brief: 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.
Dr. Vered Lewy-Weiss
Dr. Vered Lewy-Weiss
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