Intermittent Maple Syrup Urine Disease: Two Case Reports
Författare
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.
Avdelning/ar
Publiceringsår
2014
Språk
Engelska
Sidor
458-460
Publikation/Tidskrift/Serie
Pediatrics
Volym
133
Issue
2
Dokumenttyp
Artikel i tidskrift
Förlag
American Academy of Pediatrics
Ämne
- Pediatrics
Nyckelord
- maple syrup urine disease
- branched-chain ketoacidurias
- inborn errors
- of metabolism
Status
Published
Forskningsgrupp
- Clinical Chemistry, Malmö
ISBN/ISSN/Övrigt
- ISSN: 1098-4275