Thiamine-responsive maple syrup urine disease

MONDO:0017054

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 MSUD, thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency, thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency, thiamine-responsive maple syrup urine disease

0 clinical trials for this condition and its sub-types, 0 tagged with Thiamine-responsive maple syrup urine disease itself.

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Including sub-types (0) Tagged with Thiamine-responsive maple syrup urine disease (0)

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