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4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.

Abstract
Succinic semialdehyde dehydrogenase deficiency is a slowly progressive to static neurological disorder featuring elevated concentrations of 4-hydroxybutyric acid in body fluids. We present two patients with elevated 4-hydroxybutyric acid in urine which was later shown to be linked to catheter usage.
AuthorsM M C Wamelink, B Roos, E E W Jansen, M F Mulder, K M Gibson, C Jakobs
JournalMolecular genetics and metabolism (Mol Genet Metab) Vol. 102 Issue 2 Pg. 216-7 (Feb 2011) ISSN: 1096-7206 [Electronic] United States
PMID20965758 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2010 Elsevier Inc. All rights reserved.
Chemical References
  • Hydroxybutyrates
  • 4-hydroxybutyric acid
  • Succinate-Semialdehyde Dehydrogenase
  • 4-Butyrolactone
Topics
  • 4-Butyrolactone (urine)
  • Amino Acid Metabolism, Inborn Errors (diagnosis, enzymology)
  • Catheters (standards)
  • Developmental Disabilities
  • Female
  • Humans
  • Hydroxybutyrates (blood, urine)
  • Infant
  • Infant, Newborn
  • Maple Syrup Urine Disease (diagnosis, enzymology)
  • Succinate-Semialdehyde Dehydrogenase (deficiency)

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