Thiamine-responsive maple syrup urine disease
Synonyms: Thiamine-responsive BCKD deficiency | Thiamine-responsive MSUD | Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Thiamine-responsive maple syrup urine disease?
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Advocacy Organizations
DDX3X Foundation
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