Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria

Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.Materials and Methods:Here we discuss the clinical and molecular characteristics in patients with L2HGA.Results:There were eight patients with L2HG...

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Bibliographic Details
Main Authors: Ebru Canda, Melis Köse, Havva Yazıcı, Esra Er, Cenk Eraslan, Ferda Özkınay, Mahmut Çoker, Sema Kalkan Uçar, Sara Habif, Emin Karaca, Hüseyin Onay
Format: Article
Language:English
Published: Galenos Yayinevi 2018-03-01
Series:Journal of Pediatric Research
Subjects:
L-2-hydroxyglutaric aciduria
ataxia
epilepsia
psychomotor retardation
Online Access: http://jpedres.org/archives/archive-detail/article-preview/clinical-neuroimaging-and-genetic-features-of-the-/18769

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