A member asked:

Please tell me what genetic disorder is maple syrup urine disease?

A doctor has provided 1 answer

Recessive defect: Msud is an inherited defect in in metabolism.This results when two asymptomatic carrier parents give their fetus a defective gene. After birth, the baby will lack an enzyme needed to break down branch chained protein structures.These build up in the blood ; spill into the urine producing the characteristic odor.The parents are unaffected because a single copy of the normal gene do the work.

Answered 3/24/2014

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