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

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dc.contributor.authorCanda, Ebru
dc.contributor.authorKöse, Melis
dc.contributor.authorYazıcı, Havva
dc.contributor.authorEr, Esra
dc.contributor.authorEraslan, Cenk
dc.contributor.authorUçar, Sema Kalkan
dc.contributor.authorKaraca, Emin
dc.date.accessioned2020-12-01T12:32:52Z
dc.date.available2020-12-01T12:32:52Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractAim: 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 L2HGA. Their median age was 16 (9.5-37) years. Five of them were female and three of them were male. the main symptoms of the patients were psychomotor retardation (8/8), cerebellar ataxia (5/8), extrapyramidal symptoms (7/8) and seizures (4/8). All patients had behavioral problems. Elevated urinary L-2-hydroxy (L-2-OH) glutaric acid was detected and the median level of urine L-2-OH glutaric acid at diagnosis was 146 (60-1460 nmol/mol creat). Characteristic magnetic resonance imaging findings including subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus and putamen were detected. Two patients had homozygous R335X, two patients had homozygous R282Q, two patients had homozygous R302L and one patient had compound heterozygous P302L/A64T mutation in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Conclusion: Because of the slow progression of the disease, the diagnosis of the patients is usually belated. L2HGA must be considered in the differential diagnosis based on clinical findings and specific findings in cranial magnetic resonance imaging. in our study, one of our patients has a novel mutation.en_US
dc.identifier.doi10.4274/jpr.59454
dc.identifier.endpage43en_US
dc.identifier.issn2147-9445
dc.identifier.issn2587-2478
dc.identifier.issue1 özelen_US
dc.identifier.startpage39en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.59454
dc.identifier.urihttps://app.trdizin.gov.tr//makale/TXpBME5ETXhNUT09
dc.identifier.urihttps://hdl.handle.net/11454/66376
dc.identifier.volume5en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofThe Journal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPediatrien_US
dc.titleClinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduriaen_US
dc.typeArticleen_US

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