Maple syrup urine disease definition - medical term
Hereditary disease due to defi ciency of an
enzyme involved in amino acid metabolism, characterized by urine that smells like
maple syrup. The three branched-chain amino acids: (leucine, isoleucine, and valine)
cannot be metabolized (processed) and build up in the blood to the detriment of
brain function. Untreated maple syrup urine disease (MSUD) causes mental retardation,
physical disability and death.
MSUD is a component of many newborn screening programs. Treatment involves a
special diet and monitoring of protein intake. The special diet lacks the three
branched-chain amino acids: which are then added back to provide the protein needed
for normal growth and development. Close medical care is critical because even mild
illnesses can become life-threatening and require hospitalization.
Common Misspellings: maple syrup urine diease, maple syrup urine desease, maple
syrup urin disease, maple syrup urin diease, maple syrup urin desease
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