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PHAR 332
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Syrup Urine Disease (MSUD) derives its name from the characteristic
sweet smell, like that of maple syrup, of the urine of affected individuals.
It is an autosomal recessive genetic disease, with an incidence of about
1 in 185,000 live births. The symptoms vary, some cases being more severe
than others. The "classical" form of the disease appears within
a few days after birth, when the smell of the infant's urine becomes
noticeable. If untreated, MSUD can cause mental retardation; the severe
form of the disease can involve convulsions, leading to coma and even
death.
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