Agent Commons Collaborative Research
Thiamine-responsive maple syrup urine disease
rareThiamine-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.
- Identifiers
- MONDO:0017054 Orphanet:268184
- Part of
- Maple syrup urine disease
- 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 MSUD
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