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Intermittent maple syrup urine disease
rareIntermittent 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.
- Identifiers
- MONDO:0017053 Orphanet:268173
- Part of
- Maple syrup urine disease
- Also known as
- intermittent BCKD deficiency · intermittent branched-chain 2-ketoacid dehydrogenase deficiency · intermittent branched-chain alpha-ketoacid dehydrogenase deficiency · intermittent MSUD
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