Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

Zübarioğlu, TANYEL; Yalçınkaya, CENGİZ; Oruç, Çiğdem; Kıykım, ERTUĞRUL; Cansever, MEHMET; Gezdirici, Alper; Yesil, Gözde; Enver, Ece; Aktuğlu Zeybek, AYŞE

doi:10.14744/turkpediatriars.2019.06926

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

Zübarioğlu T., Yalçınkaya C., Oruç Ç., Kıykım E., Cansever M. Ş., Gezdirici A., ...Daha Fazla

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.55, sa.3, ss.290-298, 2020 (Hakemli Dergi)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 55 Sayı: 3
Basım Tarihi: 2020
Doi Numarası: 10.14744/turkpediatriars.2019.06926
Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
Sayfa Sayıları: ss.290-298
Anahtar Kelimeler: Brain magnetic resonance imaging, L2HGDH, L-2-hydroxyglutaric aciduria, subcortical white matter, GENE
İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Aim: L-2-hydroxyglutaric aciduria is a slowly progressive neurometabolic disorder caused by an enzymatic deficiency of L-2-hydroxyglutarate dehydrogenase. Here, we aimed to evaluate the clinical, neuroradiologic, and genotypic characteristics of patients with L-2-hydroxyglutaric aciduria who were followed in our outpatient clinic.