Faruk İNCECİK, Neslihan MUNGAN, Özlem Mihriban Hergüner, Deniz KÖR, Berna ŞEKER, Sakir Altunbasak

L-2-Hidroksi Glutarik Asidüri: Üç Olgu Sunumu

L-2-hidroksiglutarik asidüri nadir rastlanan, otozomal resesif geçişli, metabolik bir hastalıktır. Hastalık zihinsel engellilik, ataksi, ekstrapiramidal bulgular ve nöbetler ile gider. Tanısı kranial manyetik rezonans görüntüleme ve idrar organik asit incelemesi ile konur. Bu makalede L-2-hidroksiglutarik asidürili üç hastayı sunduk.

Anahtar Kelimeler:

L-2-hidroksiglutarik asidüri, klinik bulgular, tedavi

L-2-hydroxiglutaric aciduria: Three case reports

L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The disease is characterized by intellectual disability, ataxia, extrapyramidal signs and seizures. Diagnosis is made by cranial magnetic resonance imaging and urine organic acid analysis. In this report, we presented three patients with L-2-hydroxiglutaric aciduria.

Keywords:

L-2-hydroxiglutaric aciduria, clinical findings, treatment,

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Yazışma Adresi / Address for Correspondence: Dr. Faruk İncecik Çukurova Üniversitesi Tıp Fakültesi Çocuk Nöroloji Anabilim Dalı ADANA E-mail:fincecik@yahoo.com G eliş tarihi/received : 22.01.2014
Kabul tarihi/accepted: 27.02.2014