L2 Hidroksiglutarik Asidürili Bir Çocuk Olgu

L2 Hidroksiglutarik asidüri nadir rastlanan, otozomal resesif geçişli, metabolik bir hastalıktır. Hastalık zihinsel engellilik, ataksi, ekstrapiramidal bulgular ve nöbetler ile gider. Tanısı kranial MRG ve idrar organik asit incelemesi ile konur. On bir yaşında nöbet geçirme, yürüyememe, okul başarısında düşüklük ile başvuran ve bu tanıyı alan bir olguyu sunmaktayız

A Pediatric Case of L2 Hydroxyglutaric Aciduria

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,

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