D-2-hydroxyglutaric aciduria

MONDO:0010924

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

Also known as: D-2-HGA, D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria type 1, D-2-hydroxyglutaric aciduria 1, D2HA, D2HGA

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