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A member asked:
Hows maple syrup urine disease diagnosed?
A doctor has provided 1 answer
See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids (leucine, isoleucine, and valine). Urine organic acid measurement will detect elevated levels of branched-chain ketoacids, lactate, and pyruvate.
Answered 6/17/2015
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