D2HGDH (D-2-Hydroxyglutarate Dehydrogenase): D2HGDH is a mitochondrial enzyme crucial in the metabolism of D-2-hydroxyglutarate, a byproduct of cellular metabolism. Its role is to prevent the accumulation of D-2-hydroxyglutarate, which can be harmful in high concentrations. Dysregulation of this enzyme leads to D-2-hydroxyglutaric aciduria, characterized by a wide range of clinical symptoms including developmental delay, epilepsy, and cardiomyopathy....


Test(s) that measure/test for D2HGDH

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