L-2-hydroxyglutaric aciduria: Report of four Turkish adult patients

Karatas H., SAYGI S., Bastan B., Eker A., Kursun O., AYHAN Y., ...More

Neurologist, vol.16, no.1, pp.44-46, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 1
  • Publication Date: 2010
  • Doi Number: 10.1097/nrl.0b013e31819f9556
  • Journal Name: Neurologist
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.44-46
  • Keywords: L-2-hydroxy glutaric aciduria, epilepsy, MRI findings, adult cases, ACIDEMIA, DEHYDROGENASE, DISEASE, MRI
  • Hacettepe University Affiliated: Yes

Abstract

Background: L-2-Hydroxyglutaric aciduria is a rare progressive neurometabolic disorder of childhood inherited as an autosomal recessive trait. Urine organic-acid screening is necessary for its diagnosis. Although it is a disorder of childhood, recently adult cases have been reported.