D-2-Hydroxyglutaric Aciduria

About the Disease
D-2-Hydroxyglutaric Aciduria 1, also known as d-2-hydroxyglutaric aciduria, is related to d-2-hydroxyglutaric aciduria 2 and combined d-2- and l-2-hydroxyglutaric aciduria, and has symptoms including dyspnea, seizures and stridor. An important gene associated with D-2-Hydroxyglutaric Aciduria 1 is D2HGDH (D-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Metabolism and "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". Affiliated tissues include brain, skeletal muscle and cortex, and related phenotypes are macrocephaly and intellectual disability

Common Targets
D2HGDH | IDH1 | IDH2 | PDLIM3 | SLC25A1

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