Maple Syrup Urine Disease (MSUD)



Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.


Signs and Symptoms
Symptoms commonly begin in early infancy and include urine of a distinctive sweet odor, poor feeding, vomiting, lack of energy and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death. This disorder may also be caused by mutations in the BCKDHA, DBT, and DLD genes.

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