Classic maple syrup urine disease

MONDO:0017051

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.

Also known as: classic BCKD deficiency, classic MSUD, classic branched-chain 2-ketoacid dehydrogenase deficiency, classic branched-chain alpha-ketoacid dehydrogenase deficiency, classic branched-chain ketoaciduria, classic maple syrup urine disease

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