L-2-Hydroxyglutaric Aciduria (L2HGA)

L-2-Hydroxyglutaric Aciduria, also known as l-2-hydroxyglutaric acidemia, is related to combined d-2- and l-2-hydroxyglutaric aciduria and 2-hydroxyglutaric aciduria, and has symptoms including seizures, abnormal pyramidal signs and abnormality of extrapyramidal motor function. An important gene associated with L-2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways is Pyruvate metabolism. Affiliated tissues include cerebellum and brain, and related phenotypes are seizure and intellectual disability, severe