4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency
Molecular Genetics and Metabolism（2011）
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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Key words
SSADH,GHB,DHHA,SSA,GBL,MSUD
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