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Intermittent maple syrup urine disease

Disease definition

Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.


Classification level: Subtype of disorder
  • Synonym(s):
    • Intermittent BCKD deficiency
    • Intermittent MSUD
    • Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: E71.0
  • OMIM: 248600
  • UMLS: C0268569
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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