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Intermittent Maple Syrup Urine Disease: Two Case Reports

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Author

  • Olof Axler
  • Peter Holmquist

Summary, in English

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.

Publishing year

2014

Language

English

Pages

458-460

Publication/Series

Pediatrics

Volume

133

Issue

2

Document type

Journal article

Publisher

American Academy of Pediatrics

Topic

  • Pediatrics

Keywords

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

Status

Published

Research group

  • Clinical Chemistry, Malmö

ISBN/ISSN/Other

  • ISSN: 1098-4275