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Intermediate maple syrup urine disease
rareIntermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.
- Identifiers
- MONDO:0017052 Orphanet:268162
- Part of
- Maple syrup urine disease
- Also known as
- Intermediate BCKD deficiency · Intermediate branched-chain 2-ketoacid dehydrogenase deficiency · Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency · Intermediate MSUD
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