Combined D-2- and L-2-Hydroxyglutaric Aciduria (D2L2AD)

Combined D-2- and L-2-Hydroxyglutaric Aciduria, also known as d,l-2-hydroxyglutaric aciduria, is related to l-2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria 1, and has symptoms including dyspnea, seizures and stridor. An important gene associated with Combined D-2- and L-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 eye, and related phenotypes are macrocephaly and hepatomegaly