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GTR Home > Conditions/Phenotypes > Thiamine-responsive maple syrup urine disease

Thiamine-responsive maple syrup urine disease

Synonyms
Thiamin-responsive maple syrup urine disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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. [from ORDO]

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