Orphanet: Thiamine responsive maple syrup urine disease

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Thiamine-responsive maple syrup urine disease

Disease definition

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.


Classification level: Subtype of disorder
  • Synonym(s):
    • Thiamine-responsive BCKD deficiency
    • Thiamine-responsive MSUD
    • Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: E71.0
  • OMIM: 248600
  • UMLS: C0751285
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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