classic maple syrup urine disease
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.
MONDO:0009563
maple syrup urine disease
is_a
classic BCKD deficiency
exact
classic MSUD
exact
classic branched-chain 2-ketoacid dehydrogenase deficiency
exact
classic branched-chain alpha-ketoacid dehydrogenase deficiency
exact
classic branched-chain ketoaciduria
exact
classic maple syrup urine disease
exact