Thiamine-responsive maple syrup urine disease
Thiamine-responsive maple syrup urine disease
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.
Also known as thiamine-responsive BCKD deficiency, thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency, thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency, thiamine-responsive maple syrup urine disease, thiamine-responsive MSUD — per MONDO