Thiamine-responsive maple syrup urine disease

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Name:
Thiamine-responsive maple syrup urine disease
Description:
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.
ORPHAcode:
268184
Synonyms:
Thiamine-responsive BCKD deficiency
Thiamine-responsive MSUD
Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14