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A member asked:
My daughter is diagnosed with maple syrup urine disease. could it be genetic?
A doctor has provided 1 answer
It is genetic: This disorder results when asymptomatic carrier parents both pass a defective MSUD gene to the baby. Parents have no symptoms because 1 good gene compensates. But this means any pregnancy could pass both bad genes/no bad genes or the carrier state.There are subtypes of the disease based on the mutation. Find a metabolic specialist & geneticist for more info. Children's in Dallas has them.
Answered 6/20/2017
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