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A Pediatric Case of L2 Hydroxyglutaric Aciduria
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 aciduria
Keywords
References
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Details
Primary Language
Turkish
Subjects
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Journal Section
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Authors
Uğur Işık
Emel Çelebi Çongar
Publication Date
September 1, 2012
Submission Date
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Acceptance Date
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Published in Issue
Year 1970 Number: 3