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A member asked:
How can maple syrup urine disease cause effects on the cns?
A doctor has provided 1 answer
Part of disease: Maple syrup urine disease is caused by a genetic defect in metabolism of the Amino Acids Valine, leucine, and isoleucine. The urine smells like maple syrup but the defect causes CNS symptoms from lethargy to encephalopathy, seizures and mental retardation. There is protein intolerance due to the Amino Acid disturbances.
Answered 6/24/2014
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