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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Detalles Bibliográficos
Autores principales: Balaji, Padma, Viswanathan, V., Chellathurai, Amarnath, Panigrahi, Debasis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992782/
https://www.ncbi.nlm.nih.gov/pubmed/24753671
http://dx.doi.org/10.4103/0972-2327.128565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992782/
https://www.ncbi.nlm.nih.gov/pubmed/24753671
http://dx.doi.org/10.4103/0972-2327.128565

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