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Intermediate maple syrup urine disease

Disease definition

Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.

ORPHA:268162

  • Synonym(s):
    • Intermediate BCKD deficiency
    • Intermediate MSUD
    • Intermediate branched-chain 2-ketoacid dehydrogenase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.0
  • OMIM: 248600  615135
  • UMLS: C1621920
  • MeSH: -
  • GARD: -
  • MedDRA: -

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