L2 Hidroksiglutarik Asidürili Bir Çocuk Olgu
Authors : Uğur IŞIK, Emel Çelebi ÇONGAR
Pages : 203-205
View : 76 | Download : 13
Publication Date : 2012-09-01
Article Type : Other Papers
Abstract :L2 Hydroxiglutaric aciduria a rare, autosomal recessive inherited metabolic disorder. The disease is characterized by intellectual disability, ataxia , extrapyramidal signs and seizures. Diagnosis is made by cranial MRI and urine organic acid analysis. We present a boy who had inability to walk, poor school performance and seizures and received diagnosis of L2 hydroxyaglutaric aciduriaKeywords : L2 hydroxyglutaric aciduria, child, brain tumor, ataxia, leukodystrophy, metabolic disorder
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