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

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Maple syrup urine disease (2) Amino acid metabolism disease (1)

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