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


ZÜBARİOĞLU T., YALÇINKAYA C., Oruc C. , KIYKIM E., CANSEVER M. Ş. , Gezdirici A., ...More

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.55, no.3, pp.290-298, 2020 (Journal Indexed in ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.14744/turkpediatriars.2019.06926
  • Title of Journal : TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Page Numbers: pp.290-298

Abstract

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.