Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease (MSUD) is named for the characteristic maple syrup smell of the urine in those with the disease.  In addition, early symptoms include irritability, poor feeding, and lethargy.  Without treatment, MSUD can lead to neurological damage, seizures, coma and death.  With early detection and careful dietary control, normal growth and development are possible.  MSUD can be detected by routine newborn screening that is done in most medical centers.

Individuals with MSUD are unable to use three amino acids in protein.  Build-up of the byproducts of these amino acids is harmful to the brain, and causes the symptoms of Maple Syrup Urine Disease.  One in 81 individuals of Ashkenazi Jewish descent is a carrier of a mutation in the gene for MSUD, which is located on chromosome #6.

Treatment for MSUD involves lifelong dietary control.  The amount of dietary protein consumed must be strictly limited, and a specially-formulated supplement is often included.  Regular monitoring of blood protein levels is essential to ensure that the proper balance is maintained.