An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria

An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria (L-2-HGA), a neurometabolic disorder caused by mutations in the L-2 hydroxyglutarate dehydrogenase (L-2-HGDH) gene, presents with psychomotor retardation, cerebellar ataxia, extrapyramidal symptoms, macrocephaly and seizures. Characteristic magnetic resonance imaging fin...

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Bibliographic Details
Main Authors: Padma Balaji, V Viswanathan, Amarnath Chellathurai, Debasis Panigrahi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2014-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Dystonia
L-2 hydroxyglutaric aciduria
subcortical leukoencephalopathy with deep cerebellar white matter changes
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=1;spage=97;epage=99;aulast=Balaji

Internet

http://www.annalsofian.org/article.asp?issn=0972-2327;year=2014;volume=17;issue=1;spage=97;epage=99;aulast=Balaji

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