Intermittent Maple Syrup Urine Disease: Two Case Reports
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4470371
- author
- Axler, Olof LU and Holmquist, Peter LU
- organization
- publishing date
- 2014
- 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
- pmid:24394677
- 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
- 2016-04-01 13:28:29
- date last changed
- 2022-03-06 06:05:21
@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}}, keywords = {{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}}, doi = {{10.1542/peds.2013-0427}}, volume = {{133}}, year = {{2014}}, }