What Is Maple Syrup Urine Disease?
Reviewed: Dr. Gromatzky
7. What Is Thiamine-Response MSUD?
Thiamine-response MSUD is a specific subset of MSUD that affects thiamine disproportionately. Like intermediate MSUD, those with this category of the disorder can experience symptoms at any time, although they are not typically as severe as those with classic MSUD.
Those with thiamine-response MSUD can have neurological, intellectual and behavioral difficulties but are usually not diagnosed as newborns since the symptoms usually do not begin until later. Enzyme activity is higher than with the classic variation of MSUD but is not sufficient enough without treatment.
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