2-Hydroxyglutaric Aciduria (2-HGA)

2-Hydroxyglutaric Aciduria, also known as 2-hydroxyglutaric acidemia, 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 2-Hydroxyglutaric Aciduria is SLC25A1 (Solute Carrier Family 25 Member 1), 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 and cerebellum, and related phenotype is Reduced mammosphere formation.