Document Detail

4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.
MedLine Citation:
PMID:  20965758     Owner:  NLM     Status:  MEDLINE    
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.
M M C Wamelink; B Roos; E E W Jansen; M F Mulder; K M Gibson; C Jakobs
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-10-07
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  102     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-18     Completed Date:  2011-10-24     Revised Date:  2014-09-20    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  216-7     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Inc. All rights reserved.
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MeSH Terms
4-Butyrolactone / urine
Amino Acid Metabolism, Inborn Errors / diagnosis*,  enzymology
Catheters* / standards
Hydroxybutyrates / blood,  urine*
Infant, Newborn
Maple Syrup Urine Disease / diagnosis,  enzymology
Succinate-Semialdehyde Dehydrogenase / deficiency
Grant Support
R01 HD058553/HD/NICHD NIH HHS; R01 HD058553-03/HD/NICHD NIH HHS; R01 HD058553-04/HD/NICHD NIH HHS; R01 NS040270/NS/NINDS NIH HHS; R01 NS040270-07/NS/NINDS NIH HHS; R01 NS040270-09/NS/NINDS NIH HHS
Reg. No./Substance:
0/Hydroxybutyrates; 30IW36W5B2/4-hydroxybutyric acid; EC Dehydrogenase; OL659KIY4X/4-Butyrolactone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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