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.;