Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.
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pyruvate dehydrogenase E3 deficiency
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maple syrup urine disease, mild variant
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classic maple syrup urine disease
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intermediate 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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