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Classic maple syrup urine disease
rareClassic 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.
- Identifiers
- MONDO:0017051 Orphanet:268145
- Part of
- Maple syrup urine disease
- Also known as
- classic BCKD deficiency · classic branched-chain 2-ketoacid dehydrogenase deficiency · classic branched-chain alpha-ketoacid dehydrogenase deficiency · classic branched-chain ketoaciduria · classic MSUD
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