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Intermittent Maple Syrup Urine Disease: Two Case Reports

Axler, Olof LU and Holmquist, Peter LU (2014) In Pediatrics 133(2). p.458-460
Abstract
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
maple syrup urine disease, branched-chain ketoacidurias, inborn errors, of metabolism
in
Pediatrics
volume
133
issue
2
pages
458 - 460
publisher
American Academy of Pediatrics
external identifiers
  • wos:000333413600053
  • scopus:84893261020
ISSN
1098-4275
DOI
10.1542/peds.2013-0427
language
English
LU publication?
yes
id
b48fac2c-298d-439c-b02f-d18a8b14348b (old id 4470371)
date added to LUP
2014-07-01 07:37:55
date last changed
2017-06-25 03:56:03
@article{b48fac2c-298d-439c-b02f-d18a8b14348b,
  abstract     = {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.},
  author       = {Axler, Olof and Holmquist, Peter},
  issn         = {1098-4275},
  keyword      = {maple syrup urine disease,branched-chain ketoacidurias,inborn errors,of metabolism},
  language     = {eng},
  number       = {2},
  pages        = {458--460},
  publisher    = {American Academy of Pediatrics},
  series       = {Pediatrics},
  title        = {Intermittent Maple Syrup Urine Disease: Two Case Reports},
  url          = {http://dx.doi.org/10.1542/peds.2013-0427},
  volume       = {133},
  year         = {2014},
}