Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits.This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site