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l-2-Hydroxyglutaric aciduria (l-2-HGA) is a neurometabolic disease characterized by the presence of elevated levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. Clinical features in this inherited condition consist of mental deterioration, ataxia and motor deficits with pyramidal and extrapyramidal symptoms and signs. l-2-HGA is caused by mutations in the l-2-HGDH gene which...
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