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d-2-Hydroxyglutaric aciduria (d-2-HGA) is a very rare autosomal recessive metabolic disorder that has recently been associated with mutations in the d-2-hydroxyglutarate dehydrogenase gene. The biochemical phenotype of d-2-HGA is defined by the accumulation of abnormal amounts of d-2-hydroxyglutarate in cerebrospinal fluid, blood, and urine while the clinical phenotype can vary from a severe epileptic...
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