Genomics
Study identified biochemical and genetic defect in L-2-hydroxyglutaric aciduria
Published in Genomics and Genetics Weekly, February 25th, 2005
According to recent research from Belgium, "The purpose of [our] study was to identify the biochemical and genetic defect in L-2-hydroxyglutaric aciduria, a neurometabolic disorder characterized by the presence of elevated concentrations of L-2-hydroxyglutaric acid in urine, plasma, and cerebrospinal fluid. Evidence is provided for the existence in rat tissues of a FAD-dependent enzyme catalyzing specifically the oxidation of L-2-hydroxyglutarate to alpha-ketoglutarate. This enzyme is mainly expressed in liver and kidney but also at lower levels in...
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