Intermittent Maple Syrup Urine Disease: Two Case Reports

Olof Axler, Peter Holmquist

Research output: Contribution to journalArticlepeer-review

14 Citations (SciVal)


The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MSUD) are described. Intermittent MSUD is a potentially life-threatening metabolic disorder caused by a deficiency of branched-chain alpha-keto acid dehydrogenase, the enzyme complex that decarboxylates the 3 branched-chain amino acids. In contrast to classic MSUD, children with the intermittent form show normal development with normal intelligence and, when asymptomatic, normal levels of branched-chain amino acids. Symptoms usually appear between 5 months and 2 years of age, when a trivial infection such as otitis media or viral gastroenteritis triggers catabolism of muscle protein. Intermittent MSUD should be suspected in cases of common infections with a clinically atypical course, especially in children displaying ataxia or marked drowsiness.
Original languageEnglish
Pages (from-to)E458-E460
Issue number2
Publication statusPublished - 2014

Subject classification (UKÄ)

  • Pediatrics


  • maple syrup urine disease
  • branched-chain ketoacidurias
  • inborn errors
  • of metabolism


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