Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.
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maple syrup urine disease, mild variant
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intermediate maple syrup urine disease
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intermittent maple syrup urine disease
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thiamine-responsive maple syrup urine disease
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maple syrup urine disease type 1A
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