L-2-Hidroksi Glutarik Asidüri: Üç Olgu Sunumu
Öz
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
Kaynakça
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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
