Maple syrup urine disease: mechanisms and management
Maple syrup urine disease: mechanisms and management
About this item
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Author / Creator
Publisher
New Zealand: Dove Medical Press Limited
Journal title
Language
English
Formats
Publication information
Publisher
New Zealand: Dove Medical Press Limited
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Scope and Contents
Contents
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the...
Alternative Titles
Full title
Maple syrup urine disease: mechanisms and management
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_f1df526677534a2595339f0c57577aa8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f1df526677534a2595339f0c57577aa8
Other Identifiers
ISSN
1178-704X
E-ISSN
1178-704X
DOI
10.2147/TACG.S125962
