How was maple syrup urine disorder discovered?
There is a disease called Maple Syrup Urine Disease that is associated with mental retardation, but this has nothing to do with eating maple syrup. It is caused by a missing enzyme due to a genetic defect resulting in substances in the urine that make it smell like maple syrup. This is a disease people are born with. It is not acquired and has nothing to do with diet.
Maple syrup urine disease (MSUD) is ametabolismdisorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition can smell like maple syrup. Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down theamino acidsleucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood.
Well over 100 inborn errors of metabolism can now be detected by newborn screening, with more certainty. Concomitantly with the onset of the symptoms, the patient affected with MSUD emits an intense (sweet, malty, caramel-like) maple-syrup-like odor. In general, neonatal (classic) MSUD does not display pronounced abnormalities on routine laboratory tests.