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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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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3992782/ https://ncbi.nlm.nih.gov/pubmed/24753671 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.128565 |
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