" /> 2-Hydroxyglutaric Aciduria - CISMeF





Preferred Label : 2-Hydroxyglutaric Aciduria;

NCIt definition : A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified based on the steroisomeric composition of the elevated alpha-hydroxyglutaric acid metabolites. Additionally, the disease may be categorized by the genetic mutation that is causative. Genes associated with 2-hydroxyglutaric aciduria are L2HGDH, D2HGDH, IDH2, and/or SLC25A1. Generally, there is nervous system involvement, but the clinical manifestations are variable and are dependent on the specific type of defect present.;

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30/07/2025


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