Classic maple syrup urine disease
Også kjent som: Classic MSUD
Engelsk navn: Classic maple syrup urine disease
Engelske synonym: Classic BCKD deficiency,Classic MSUD,Classic branched-chain alpha-ketoacid dehydrogenase deficiency,Classic branched-chain ketoaciduria
Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) 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.
Klassifiseringsnivå: Subtype of disorder