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.

Fra Orphanet

ORPHA: 268145
Klassifiseringsnivå: Subtype of disorder
ICD-10: E71.0

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