Classic maple syrup urine disease
ORPHA:268145· ICD-10 E71.0
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal