Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 2012 , Vol 3, Issue 3
A Pediatric Case of L2 Hydroxyglutaric Aciduria
Uğur Işık, Emel Çelebi Çongar
Acıbadem Üniversitesi Tıp Fakültesi, Pediatri Anabilim Dalı, Istanbul, Türkiye 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 : L2 hydroxyglutaric aciduria, child, brain tumor, ataxia, leukodystrophy, metabolic disorder