Thiamine-responsive maple syrup urine disease
ORPHA:268184· ICD-10 E71.0
Definition
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy