Classic maple syrup urine disease
Classic maple syrup urine disease
Definition
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 branched-chain 2-ketoacid dehydrogenase deficiency, classic branched-chain alpha-ketoacid dehydrogenase deficiency, classic branched-chain ketoaciduria, classic maple syrup urine disease, classic MSUD — per MONDO