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.
Comprehensive, easy-to-understand information about this condition
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pyruvate dehydrogenase E3 deficiency
MONDO:0009529
maple syrup urine disease, mild variant
MONDO:0014057
classic maple syrup urine disease
MONDO:0017051
intermediate maple syrup urine disease
MONDO:0017052
intermittent maple syrup urine disease
MONDO:0017053
maple syrup urine disease type 1A
MONDO:0023691