Full metadata record
DC Field | Value | Language |
---|---|---|
dc.creator | Luis, E. (Esther) de | - |
dc.creator | Larrache, J. (Javier) | - |
dc.creator | Garcia-de-Eulate, R. (Reyes) | - |
dc.creator | Narbona, J. (Juan) | - |
dc.creator | Zubieta, J.L. (José L.) | - |
dc.date.accessioned | 2012-12-12T09:31:18Z | - |
dc.date.available | 2012-12-12T09:31:18Z | - |
dc.date.issued | 2007 | - |
dc.identifier.citation | de Luis E, Larrache J, García-Eulate R, García JN, Zubieta JL. Hallazgos neurorradiologicos de la Acidosis Glutarica tipo I. Rev Med Univ Navarra. 2007 Jul-Sep;51(3):9-12. | es_ES |
dc.identifier.issn | 0556-6177 | - |
dc.identifier.uri | https://hdl.handle.net/10171/27425 | - |
dc.description.abstract | Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in increased levels of glutaric acid, which typically becomes clinically manifest as an acute dystonic crisis in young children. Accumulation of glutaric acid causes neurotoxicity in the basal ganglia and fronto-temporal cortex which can lead to progressive dystonia, hypotonia, permanently impaired speech and seizures. Because dietary and drug therapy may alter the natural history of the disease, early diagnosis of such patients is critical. We report the magnetic resonance (MR) imaging findings in a 16 year-old girl with this disorder who presented with a chronic dystonic syndrome and previously diagnosed of brain paralysis. MR imaging demonstrated bilateral involvement of the putamina and periventricular white matter, and bilateral temporal atrophy and widened Silvian fissures | es_ES |
dc.language.iso | spa | es_ES |
dc.publisher | Universidad de Navarra | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.subject | Amino Acid Metabolism, Inborn Errors | es_ES |
dc.subject | Glutaryl-CoA Dehydrogenase | es_ES |
dc.subject | Mitochondrial Diseases/diet therapy/genetics | es_ES |
dc.title | Hallazgos neurorradiológicos de la Acidosis Glutárica tipo I | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.relation.publisherversion | https://revistas.unav.edu/index.php/revista-de-medicina | es_ES |
dc.type.driver | info:eu-repo/semantics/article | es_ES |
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