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4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH
M M C Wamelink1, B Roos, E E W Jansen
1VU University Medical Center, Department of Clinical Chemistry, Metabolic Unit, Amsterdam, The Netherlands. m.wamelink@vumc.nl
Molecular Genetics and Metabolism
|October 23, 2010
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.
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