<h4>Background</h4>L-2-hydroxyglutaric aciduria (L2HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by pathogenic variants in the <i>L2HGDH</i> gene which encodes mitochondrial 2-hydroxyglutarate dehydrogenase. This evidence concerns the gene L2HGDH and L-2-hydroxyglutaric aciduria.