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

No Thumbnail Available
Authors
Ullah, M. I.
Nasir, A.
Ahmad, A.
Harlalka, Gaurav V.
Ahmad, W.
Hassan, M. J.
Baple, E. L.
Crosby, Andrew
Chioza, B. A.
Journal
BMC medical genetics
Type
Case Report
Publisher
BioMed Central
Rights
Archived with thanks to BMC medical genetics
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.
Citation
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. 2018, 19 (1):25 BMC Med. Genet.
Note
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.