3 doctors weighed in:

What test for maple syrup urine disease?

3 doctors weighed in
Dr. Quresh Khairullah
Internal Medicine - Nephrology & Dialysis
2 doctors agree

In brief: 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.

In brief: 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.
Dr. Quresh Khairullah
Dr. Quresh Khairullah
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