thiamine-responsive maple syrup urine disease
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.
MONDO:0009563
maple syrup urine disease
is_a
thiamine-responsive BCKD deficiency
exact
thiamine-responsive MSUD
exact
thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency
exact
thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
exact
thiamine-responsive maple syrup urine disease
exact